SPG9

Last updated
SPG9
Identifiers
Aliases SPG9 , spastic paraplegia 9 (autosomal dominant)
External IDs GeneCards: SPG9
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed search [1] n/a
Wikidata
View/Edit Human

Spastic paraplegia 9 (autosomal dominant) is a protein that in humans is encoded by the SPG9 gene. [2]

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.

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.

Related Research Articles

Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms.

Palmoplantar keratoderma keratosis characterized by abnormal thickening of the palms and the soles

Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soles.

Proteolipid protein 1 protein-coding gene in the species Homo sapiens

Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease. It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane. In a myelin sheath, as the layers of myelin wraps come together, PLP will bind itself and tightly hold the cellular membranes together.

Spastin protein-coding gene in the species Homo sapiens

The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.

Atlastin protein-coding gene in the species Homo sapiens

Atlastin, or Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.

Paraplegin protein-coding gene in the species Homo sapiens

Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.

SPG20 protein-coding gene in the species Homo sapiens

Spartin is a protein that in humans is encoded by the SPG20 gene.

Sacsin protein-coding gene in the species Homo sapiens

Sacsin also known as DnaJ homolog subfamily C member 29 (DNAJC29) is a protein that in humans is encoded by the SACS gene. Sacsin is a Hsp70 co-chaperone.

KIF5A protein-coding gene in the species Homo sapiens

Kinesin heavy chain isoform 5A is a protein that in humans is encoded by the KIF5A gene.

NIPA1 protein-coding gene in the species Homo sapiens

Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.

KIAA0196 protein-coding gene in the species Homo sapiens

KIAA0196 is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.

SPG11 protein-coding gene in the species Homo sapiens

Spatacsin is a protein that in humans is encoded by the SPG11 gene.

GJC2 protein-coding gene in the species Homo sapiens

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

AFG3L2 protein-coding gene in the species Homo sapiens

AFG3 ATPase family gene 3-like 2 is a protein that in humans is encoded by the AFG3L2 gene.

FA2H protein-coding gene in the species Homo sapiens

Fatty acid 2-hydroxylase is a protein that in humans is encoded by the FA2H gene.

SLC33A1 protein-coding gene in the species Homo sapiens

Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.

Spastic paraplegia 14 is a protein that in humans is encoded by the SPG14 gene.

Spastic paraplegia 16 is a protein that in humans is encoded by the SPG16 gene.

ZFYVE26 protein-coding gene in the species Homo sapiens

Zinc finger, FYVE domain containing 26 is a protein that in humans is encoded by the ZFYVE26 gene.

Spastic paraplegia 23 is a 25cM gene locus at 1q24-q32. A genomewide linkage screen has associated this locus with a type of hereditary spastic paraplegia (HSP).

References

Further reading

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