BCAP31

Description

The BCAP31 (B cell receptor associated protein 31) is a protein-coding gene located on chromosome X.

BCAP31, encoded by the BCAP31 gene located at Xq28, is a protein involved in ER-to-Golgi anterograde transport. Its dysfunction primarily affects males due to its X-chromosome location, leading to a congenital neurological condition characterized by severe intellectual disability (ID), dystonia, deafness, and central hypomyelination. This syndrome is often referred to as deafness, dystonia and cerebral hypomyelination syndrome (DDCH). Most patients with a BCAP31 gene variant experience permanent or temporary liver enzyme elevation. BCAP31.org, initiated by parents of individuals with BCAP31-related disorders, aims to provide support to families, clinicians, and researchers working on the disease.

BCAP31 acts as a chaperone protein, primarily located in the endoplasmic reticulum (ER). It assists in the export of secreted proteins from the ER and identifies misfolded proteins, directing them for degradation by the ER-associated degradation (ERAD) pathway. BCAP31 also serves as a cargo receptor for the export of transmembrane proteins. It plays a key role in the assembly of mitochondrial NADH dehydrogenase (Complex I) by facilitating the movement of NDUFS4 and NDUFB11 from the cytosol to the mitochondria through interaction with TOMM40. Upon ER stress, BCAP31 relocates from the ER-mitochondria interface and binds to BCL2. BCAP31 might be involved in CASP8-mediated apoptosis.

BCAP31 is also known as 6C6-AG, BAP31, CDM, DDCH, DELXQ28, DXS1357E, MICRODELXq28.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing