FXYD6

Last updated
FXYD domain containing ion transport regulator 6
Identifiers
SymbolFXYD6
Entrez 53826
HUGO 4030
OMIM 606683
RefSeq NM_022003
UniProt Q9H0Q3
Other data
Locus Chr. 11 q23.3

FXYD6 (pronounced fix-id six), or FXYD domain-containing ion transport regulator 6, is a gene which is located at the 11q23.3 (chromosome 11 locus 23.3). The FXYD6 protein contains 95 amino acids, and can be found in all human tissues except blood.

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.

Chromosome 11 human chromosome

Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells. The shorter arm is termed 11p while the longer arm is 11q. At about 21.5 genes per megabase, chromosome 11 is one of the most gene-rich, and disease-rich, chromosomes in the human genome.

Contents

This gene belongs to the FXYD family of ion transport regulators [1]

FXYD family

The FXYD protein family is a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the amino acid sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator.

Pathology

According to recent research, mutations in the FXYD6 gene, or in sequences close by this gene, can predispose to the schizophrenia which is known to be strongly heritable. [2] [3]

Schizophrenia Mental disorder characterized by abnormal behavior and misinterpretation of reality

Schizophrenia is a mental disorder characterized by abnormal behavior, strange speech, and a decreased ability to understand reality. Other symptoms may include false beliefs, unclear or confused thinking, hearing voices that do not exist, reduced social engagement and emotional expression, and lack of motivation. People with schizophrenia often have additional mental health problems such as anxiety, depression, or substance-use disorders. Symptoms typically come on gradually, begin in young adulthood, and, in many cases, never resolve.

Related Research Articles

Autosome Any chromosome other than a sex chromosome.

An autosome is a chromosome that is not an allosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome pairs which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA.

Norepinephrine transporter protein-coding gene in the species Homo sapiens

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Chromosome 6 human chromosome

Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs and represents between 5.5 and 6% of the total DNA in cells. It contains the Major Histocompatibility Complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.

Chromosome 13 human chromosome

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Chromosome 22 human chromosome

Chromosome 22 is one of the 23 pairs of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells.

Chromosome 7 human chromosome

Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs and represents between 5 and 5.5 percent of the total DNA in cells.

Chromosome 8 Human chromosome

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Chromosome 17 human chromosome

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DiGeorge syndrome T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Associated conditions include kidney problems, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves disease.

TAAR6 Protein-coding gene in the species Homo sapiens

Trace amine associated receptor 6, also known as TAAR6, is a protein which in humans is encoded by the TAAR6 gene.

FXYD2 protein-coding gene in the species Homo sapiens

Sodium/potassium-transporting ATPase gamma chain is a protein that in humans is encoded by the FXYD2 gene.

FXYD1 protein-coding gene in the species Homo sapiens

Phospholemman (PLM) is a protein that in humans is encoded by the FXYD1 gene.

FXYD3 protein-coding gene in the species Homo sapiens

FXYD domain-containing ion transport regulator 3 is a protein that in humans is encoded by the FXYD3 gene.

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Apolipoprotein L belongs to the high density lipoprotein family that plays a central role in cholesterol transport. The cholesterol content of membranes is important in cellular processes such as modulating gene transcription and signal transduction both in the adult brain and during neurodevelopment. There are six apo L genes located in close proximity to each other on chromosome 22q12 in humans. 22q12 is a confirmed high-susceptibility locus for schizophrenia and close to the region associated with velocardiofacial syndrome that includes symptoms of schizophrenia.

Eps15 homology domain-containing protein 3, abbreviated as EDH3 and also known as PAST3, is a protein encoded by the EHD3 gene. It has been observed in humans, mice and rats. It belongs to the EHD protein family, a group of four membrane remodeling proteins related to the Dynamin superfamily of large GTPases. Although the four of them are 70-80% amino acid identical, they all have different locations. Its main function is related to endocytic transport.

Zinc transporter ZIP9 protein-coding gene in the species Homo sapiens

Zinc transporter ZIP9, also known as Zrt- and Irt-like protein 9 (ZIP9) and solute carrier family 39 member 9, is a protein that in humans is encoded by the SLC39A9 gene. This protein is the 9th member out of 14 ZIP family proteins, which is a membrane androgen receptor (mAR) coupled to G proteins, and also classified as a zinc transporter protein. ZIP family proteins transport zinc metal from the extracellular environment into cells through cell membrane.

References

  1. ↑ ATP1G1/PLM/MAT8 family in PFAM [ permanent dead link ]
  2. ↑ Getting Crowded on Chromosome 11q22—Make Way for Phosphohippolin Archived April 30, 2007, at the Wayback Machine
  3. ↑ Choudhury K, McQuillin A, Puri V, et al. (2007). "A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia". Am. J. Hum. Genet. 80 (4): 664–72. doi:10.1086/513475. PMC   1852702 . PMID   17357072.
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