Gene Symbol | BCAP31 |
Entrez Gene ID | 10134 |
Full Name | B cell receptor associated protein 31 |
Synonyms | 6C6-AG,BAP31,CDM,DDCH,DXS1357E |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Deafness, dystonia, and cerebral hypomyelination, 300475 (3) |