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- Table of Contents
Facts about Vacuolar protein sorting-associated protein 13B.
.
Human | |
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Gene Name: | VPS13B |
Uniprot: | Q7Z7G8 |
Entrez: | 157680 |
Belongs to: |
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VPS13 family |
cohen syndrome protein 1; DKFZp313I0811; KIAA0532; vacuolar protein sorting 13 homolog B (yeast)
Mass (kDA):
448.664 kDA
Human | |
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Location: | 8q22.2 |
Sequence: | 8; NC_000008.11 (99013266..99877586) |
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.
PMID: 12730828 by Kolehmainen J., et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
PMID: 15498460 by Velayos-Baeza A., et al. Analysis of the human VPS13 gene family.