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BCAP31

Official Full Name
B cell receptor associated protein 31
Organism
Homo sapiens
GeneID
10134
Background
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
CDM; DDCH; BAP31; 6C6-AG; DELXQ28; DXS1357E; MICRODELXq28;

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