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.
CAP31; B-cell receptor-associated protein 31; CDM; BAP31; 6C6-AG; DXS1357E; BCR-associated protein 31; 6C6-AG tumor-associated antigen; Protein CDM; p28; OTTHUMP00000025977; OTTHUMP00000025978; OTTHUMP00000025979; OTTHUMP00000025981; OTTHUMP00000025983; BCR-associated; BCAP31; 6C6 Ag; p28 Bap31; BCR-associated protein Bap31; CALD1; caldesmon; zgc:56389; si:bz30i22.4; si:rp71-30i22.4; accessory protein BAP31