BCAP31 Chromosome X
B cell receptor associated protein 31
Upload your DNA to see your personal genotypes for variants in BCAP31.
What This Gene Does
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]
Associated Conditions (7)
BCAP31-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Microcephaly
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Key Variants
RS111450526
Conflicting classifications of pathogenicity
BCAP31-related disorder, BCAP31-related disorder
Health Risk
RS199876065
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200212822
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201920029
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781905415
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thyroid cancer, nonmedullary
Health Risk
RS782080260
Conflicting classifications of pathogenicity
Health Risk
RS782155363
Conflicting classifications of pathogenicity
Microcephaly, Inborn genetic diseases, Microcephaly
Health Risk
RS782325268
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782574376
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782683945
Conflicting classifications of pathogenicity
Health Risk
RS1557047215
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2522194574
Likely pathogenic
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111450526 | Health Risk | Conflicting classifications of pathogenicity | BCAP31-related disorder, BCAP31-related disorder |
| RS199876065 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200212822 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201920029 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781905415 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Thyroid cancer, nonmedullary |
| RS782080260 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782155363 | Health Risk | Conflicting classifications of pathogenicity | Microcephaly, Inborn genetic diseases, Microcephaly |
| RS782325268 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782574376 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782683945 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1557047215 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2522194574 | Health Risk | Likely pathogenic | — |
| RS2522249883 | Health Risk | Likely pathogenic | — |
| RS1057518721 | Health Risk | Pathogenic | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
| RS1064794057 | Health Risk | Pathogenic | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Thyroid cancer, nonmedullary |
| RS1557047954 | Health Risk | Pathogenic | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Inborn genetic diseases, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
| RS1569540524 | Health Risk | Pathogenic | — |
| RS1603223001 | Health Risk | Pathogenic | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
| RS2148370601 | Health Risk | Pathogenic | BCAP31-related disorder, BCAP31-related disorder |
| RS2522226655 | Health Risk | Pathogenic | — |
| RS397515620 | Health Risk | Pathogenic | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Thyroid cancer, nonmedullary |
| RS879255569 | Health Risk | Pathogenic | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome |
| RS886041892 | Health Risk | Pathogenic | — |