BCAP31

Chr X

B cell receptor associated protein 31

Also known as: 6C6-AG, BAP31, CDM, DDCH, DELXQ28, DXS1357E, MICRODELXq28

NCBI Gene: 10134 ENSG00000185825 UniProt: P51572

BCAP31 encodes a chaperone protein that facilitates export of secreted and transmembrane proteins from the endoplasmic reticulum and plays a role in mitochondrial respiratory chain assembly. Mutations cause X-linked recessive deafness, dystonia, and cerebral hypomyelination, affecting the auditory, motor, and central nervous systems. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.65), and microdeletions involving BCAP31 are associated with contiguous ABCD1/DXS1375E deletion syndrome presenting in the neonatal period.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, dystonia, and cerebral hypomyelination

Clinical highlights

Gene-disease validity (ClinGen)

severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.65

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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