Protein Name | B cell receptor associated protein 31 |
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Organism | Homo sapiens |
Gene ID | 10134 |
Gene Symbol | BCAP31 |
UniProt | P51572 (BAP31_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
27
Total Number of Articles : 29 |
Description |
B cell receptor associated protein 31 |
Gene Summary |
This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012] |
synonyms |
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Properties | |