BCAP31
Chr XB cell receptor associated protein 31
Also known as: 6C6-AG, BAP31, CDM, DDCH, DELXQ28, DXS1357E, MICRODELXq28
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.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 8 | 0 | 103 | 0 | 111 |
Likely Pathogenic | 3 | 1 | 3 | 0 | 7 |
VUS | 2 | 50 | 25 | 1 | 78 |
Likely Benign | 0 | 6 | 36 | 27 | 69 |
Benign | 2 | 1 | 19 | 2 | 24 |
Conflicting | — | 11 | |||
| Total | 15 | 58 | 186 | 30 | 300 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BCAP31 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools