BCAP31 wt Allele

Preferred Label : BCAP31 wt Allele;

NCIt synonyms : CDM; BAP31; B Cell Receptor Associated Protein 31 wt Allele; DXS1357E; DDCH; 6C6-AG;

NCIt definition : Human BCAP31 wild-type allele is located in the vicinity of Xq28 and is approximately 24 kb in length. This allele, which encodes B-cell receptor-associated protein 31, is involved in protein maturation and transport. Mutations in the gene are associated with deafness, dystonia, and cerebral hypomyelination and microdeletions in the region are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS).;

NCI Metathesaurus CUI : CL1647671;

GenBank Accession Number : X81109;

Details

Origin ID

C178147;

UMLS CUI

C5551053;

Automatic exact mappings (from CISMeF team)
- B cell receptor associated protein 31 [ORDO Gene]
- B-cell receptor-associated protein 31 [OMIM gene]
- Caldesmon 1 [OMIM gene]
- Deafness, dystonia, and cerebral hypomyelination [OMIM Phenotype]
OMIM relation
- B-cell receptor-associated protein 31 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_plays_role_in_process
- Caspase-Dependent Apoptosis [NCIt concept]
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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