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Gene : APH1B Homo sapiens

Name  ? aph-1 homolog B, gamma-secretase subunit Cytological Location  15q22.2
Brief Description  aph-1 homolog B, gamma-secretase subunit
description  This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
  • synonyms:
  • TAAV688,
  • HGNC:24080,
  • PSFL,
  • APH1B gamma secretase subunit,
  • APH-1B,
  • APH1B,
  • PRO1328,
  • APH-1B,
  • AY358698,
  • DKFZp564D0372,
  • PSFL,
  • OTTHUMG00000132863,
  • NM_031301,
  • uc002ama.4,
  • anterior pharynx defective 1 homolog B (C. elegans)
  • identifiers:
  • 83464,
  • ENSG00000138613,
  • APH1B

Genome feature

Region: gene ? Length: 31577  
Location: 15:63277550-63309126 Cyto location: 15q22.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 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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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

747 SN Ps

5 Cross References

15 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results