Usher 1C

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Usher 1C is a human gene. Recessive alleles of this gene are responsible for type 1C Usher syndrome and nonsyndromic deafness.

Human Species of hominid

Humans are the only extant members of the subtribe Hominina. Together with chimpanzees, gorillas, and orangutans, they are part of the family Hominidae. A terrestrial animal, humans are characterized by their erect posture and bipedal locomotion; high manual dexterity and heavy tool use compared to other animals; open-ended and complex language use compared to other animal communications; larger, more complex brains than other animals; and highly advanced and organized societies.

Gene basic physical and functional unit of heredity

In biology, a gene is a sequence of nucleotides in DNA or RNA that codes for a molecule that has a function. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic trait. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes as well as gene–environment interactions. Some genetic traits are instantly visible, such as eye color or number of limbs, and some are not, such as blood type, risk for specific diseases, or the thousands of basic biochemical processes that constitute life.

An allele is a variant form of a given gene. Sometimes, the presence of different alleles of the same gene can result in different observable phenotypic traits, such as different pigmentation. A notable example of this trait of color variation is Gregor Mendel's discovery that the white and purple flower colors in pea plants were the result of "pure line" traits which could be used as a control for future experiments. However, most genetic variations result in little or no observable variation.

Contents

The official name of the gene Usher 1C is “Usher syndrome 1C (autosomal recessive, severe).”

Usher syndrome syndrome characterized by a combination of hearing loss and visual impairment

Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is the majority cause of deafblindness and is at present incurable.

USH1C is the gene's official symbol. The USH1C gene is also known by other names, listed in the Other Names section, below.

Function

The USH1C gene carries the instructions for the production of a protein called harmonin. Harmonin has the ability to bind to many other proteins in cell membranes and coordinates their activities. Harmonin sometimes acts as a bridge linking proteins in the cell membrane to those in the cytoskeleton, the internal framework that supports the cell.

Protein biological molecule consisting of chains of amino acid residues

Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific three-dimensional structure that determines its activity.

Cytoskeleton Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces interm

A cytoskeleton is present in the cytoplasm of all cells, including bacteria, and archaea. It is a complex, dynamic network of interlinking protein filaments that extends from the cell nucleus to the cell membrane. The cytoskeletal systems of different organisms are composed of similar proteins. In eukaryotes, the cytoskeletal matrix is a dynamic structure composed of three main proteins, which are capable of rapid growth or disassembly dependent on the cell's requirements.

Cell (biology) the basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.

The cell is the basic structural, functional, and biological unit of all known living organisms. A cell is the smallest unit of life. Cells are often called the "building blocks of life". The study of cells is called cell biology or cellular biology.

Research suggests that harmonin plays a role in the development and maintenance of hairlike projections called stereocilia. Stereocilia line the inner ear and bend in response to sound waves. This bending motion is critical for converting sound waves to nerve impulses, an essential process for normal hearing. In the inner ear, protein complexes organized by harmonin probably act as connectors that link stereocilia into a bundle. This protein complex likely helps regulate the transmission of sound waves.

Morphogenesis is the biological process that causes an organism to develop its shape. It is one of three fundamental aspects of developmental biology along with the control of cell growth and cellular differentiation, unified in evolutionary developmental biology (evo-devo).

Stereocilia

Stereocilia are non-motile apical modifications of the cell, which are distinct from cilia and microvilli, but closely related to the latter.

Inner ear innermost part of the vertebrate ear

The inner ear is the innermost part of the vertebrate ear. In vertebrates, the inner ear is mainly responsible for sound detection and balance. In mammals, it consists of the bony labyrinth, a hollow cavity in the temporal bone of the skull with a system of passages comprising two main functional parts:

Harmonin is also made in specialized cells called photoreceptors. These cells detect and transfer light energy to the light-sensitive tissue at the back of the eye (the retina). The function of the harmonin-protein complex in the retina is not well understood, but it is thought to be important in the development and function of photoreceptor cells.

Photoreceptor cell specialized type of cell found in the retina that is capable of visual phototransduction

A photoreceptor cell is a specialized type of neuroepithelial cell found in the retina that is capable of visual phototransduction. The great biological importance of photoreceptors is that they convert light into signals that can stimulate biological processes. To be more specific, photoreceptor proteins in the cell absorb photons, triggering a change in the cell's membrane potential.

Human eye mammalian eye; part of the visual organ of the human body, and move using a system of six muscles

The human eye is an organ which reacts to light and pressure. As a sense organ, the mammalian eye allows vision. Human eyes help to provide a three dimensional, moving image, normally coloured in daylight. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth. The human eye can differentiate between about 10 million colors and is possibly capable of detecting a single photon.

Retina light-sensitive organ in the eye

The retina is the innermost, light-sensitive layer of tissue of the eye of most vertebrates and some molluscs. The optics of the eye create a focused two-dimensional image of the visual world on the retina, which translates that image into electrical neural impulses to the brain to create visual perception, the retina serving a function analogous to that of the film or image sensor in a camera.

Other names

Related Research Articles

Cochlea organ of the inner ear

The cochlea is the part of the inner ear involved in hearing. It is a spiral-shaped cavity in the bony labyrinth, in humans making 2 turns(full) and a 3/4(3 quarters) turn around its axis, the modiolus. A core component of the cochlea is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea.

Retinitis pigmentosa retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss

Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreased peripheral vision. Onset of symptoms is generally gradual. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon.

Sensorineural hearing loss human disease

Sensorineural hearing loss (SNHL) is a type of hearing loss, or deafness, in which the root cause lies in the inner ear or sensory organ or the vestibulocochlear nerve. SNHL accounts for about 90% of reported hearing loss. SNHL is generally permanent and can be mild, moderate, severe, profound, or total. Various other descriptors can be used depending on the shape of the audiogram, such as high frequency, low frequency, U-shaped, notched, peaked, or flat.

Stereocilia (inner ear) stereocilia in inner ear

In the inner ear, stereocilia are the mechanosensing organelles of hair cells, which respond to fluid motion in numerous types of animals for various functions, including hearing and balance. They are about 10–50 micrometers in length and share some similar features of microvilli. The hair cells turn the fluid pressure and other mechanical stimuli into electric stimuli via the many microvilli that make up stereocilia rods. Stereocilia exist in the auditory and vestibular systems.

MYO7A protein-coding gene in the species Homo sapiens

Myosin VIIA is protein that in humans is encoded by the MYO7A gene. Myosin VIIA is a member of the unconventional myosin superfamily of proteins. Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.

USH2A protein-coding gene in the species Homo sapiens

Usherin is a protein that in humans is encoded by the USH2A gene.

CLRN1 protein-coding gene in the species Homo sapiens

Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.

USH1C protein-coding gene in the species Homo sapiens

Harmonin is a protein that in humans is encoded by the USH1C gene. Required for development and maintenance of cochlear hair cells.

CDH23 protein-coding gene in the species Homo sapiens

Cadherin-23 is a protein that in humans is encoded by the CDH23 gene.

USH1G protein-coding gene in the species Homo sapiens

Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.

PDE6B protein-coding gene in the species Homo sapiens

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta is the beta subunit of the protein complex PDE6 that is encoded by the PDE6B gene. PDE6 is crucial in transmission and amplification of visual signal. The existence of this beta subunit is essential for normal PDE6 functioning. Mutations in this subunit are responsible for retinal degeneration such as retinitis pigmentosa or congenital stationary night blindness.

<i>NRL</i> (gene) protein-coding gene in the species Homo sapiens

Neural retina-specific leucine zipper protein is a protein that in humans is encoded by the NRL gene.

KCNJ10 protein-coding gene in the species Homo sapiens

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.

DFNB31 protein-coding gene in the species Homo sapiens

Whirlin is a protein that in humans is encoded by the DFNB31 gene.

STRC protein-coding gene in the species Homo sapiens

Stereocilin is a protein that in humans is encoded by the STRC gene.

Dock4-Ex49 is a splice variant of the signalling protein Dock4. It has been found in the brain, inner ear and eye. It is able to bind and activate the small G protein Rac and may regulate the organisation of the actin cytoskeleton in the Stereocilia of the inner ear.

The neuronal encoding of sound is the representation of auditory sensation and perception in the nervous system.

References

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