This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Function:
May be involved in protein sorting in post Golgi membrane traffic.
Tissue Specificity:
Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult. Expression is very low in adult brain tissue. Isoform 1 and isoform 2 are expressed in brain and retina. Isoform 2 is expressed ubiquitously.
DISEASE:
Defects in VPS13B are a cause of Cohen syndrome (COH1) [MIM:216550]. COH1 is a rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.
Similarity:
Belongs to the VPS13 family.
SWISS:
Q7Z7G8
Gene ID:
157136
Database links:
Entrez Gene: 157136 Human
Entrez Gene: 666173 Mouse
Entrez Gene: 315036 Rat
Omim: 607817 Human
SwissProt: Q7Z7G8 Human
SwissProt: Q80TY5 Mouse
Unigene: 191540 Human
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