This gene encodes an integral membrane protein that localizes to the endoplasmic reticulum in colonic epithelial cells. The encoded protein can multimerize and may function as an ion channel. A polymorphism in the promoter of this gene may be linked to an increased risk of X-linked mental retardation. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Jan 2010]
Function:
May play a role in cell differentiation in the intestinal epithelium.
Subcellular Location:
Membrane.
Tissue Specificity:
Enriched in colonic mucosa. The expression of A4 follows a gradient along the crypto-villus axis with the most abundant message occurring in the lower half of the crypt.
Similarity:
Contains 1 MARVEL domain.
SWISS:
Q04941
Gene ID:
5355
Database links:
Entrez Gene: 5355 Human
Omim: 300112 Human
SwissProt: Q04941 Human
Unigene: 77422 Human
|
|
