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Gene : BCAP31 Homo sapiens

Name  ? B cell receptor associated protein 31 Cytological Location  Xq28
Brief Description  B cell receptor associated protein 31
Description  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]
  • synonyms:
  • 6C6-AG,
  • CDM,
  • DXS1357E,
  • DDCH,
  • CDM,
  • DXS1357E,
  • uc004fie.3,
  • BAP31,
  • BAP31,
  • NM_005745,
  • OTTHUMG00000024218,
  • 6C6-Ag,
  • BCAP31,
  • X81109,
  • HGNC:16695
  • identifiers:
  • 10134,
  • ENSG00000185825,
  • BCAP31

Genome feature

Region: gene ? Length: 24255  
Location: X:153700492-153724746 reverse strand Cyto location: Xq28


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

320 SN Ps

5 Cross References

19 Data Sets

9 Homologues

0 Located Features

97 Rna Seq Results