Aliases for BCAP31 Gene
External Ids for BCAP31 Gene
Previous GeneCards Identifiers for BCAP31 Gene
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]
GeneCards Summary for BCAP31 Gene
BCAP31 (B-Cell Receptor-Associated Protein 31) is a Protein Coding gene. Diseases associated with BCAP31 include deafness, dystonia, and cerebral hypomyelination and severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome. Among its related pathways are Apoptotic cleavage of cellular proteins and Akt Signaling. GO annotations related to this gene include protein complex binding and MHC class I protein binding. An important paralog of this gene is BCAP29.
UniProtKB/Swiss-Prot for BCAP31 Gene
Functions as a chaperone protein. Is one of the most abundant endoplasmic reticulum (ER) proteins. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD). Also serves as a cargo receptor for the export of transmembrane proteins. May be involved in CASP8-mediated apoptosis.