Entrez gene ID | | 10134 |
Official gene symbol | | BCAP31 |
Full name | | B-cell receptor-associated protein 31 |
Aliases | | ,6C6-AG,BAP31,CDM,DXS1357E, |
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 the caspase 8-mediated apoptosis. Microdeletions in this gene are associated with the contiguous ABCD1/DXS1375E deletion syndrome. Two pseudogenes have been identified on chromosome 16. Alternatively spliced transcript variants encoding distinct isoforms have been described although the biological validity of some of the variants has not been determined. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xq28 |
Gene position | | 152990201 - 152965947 Map Viewer |
Gene orientation | | minus |
Gene size | | 24255 bp |
Gene sequence |
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OMIM ID | | 300398 |