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 Chromosome Xq28 Deletion Syndrome. Among its related pathways are p70S6K Signaling 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.