| Gene Symbol |
BAP31
|
| Gene Synonyms |
CDM DDCH BAP31 6C6-AG DELXQ28 DXS1357E MICRODELXq28 |
| Gene Full Name |
B cell receptor associated protein 31 |
| 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 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] |
| Molecular Weight(MW) |
28KD |
| Cellular Localization |
Endoplasmic reticulum,Membrane |