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Gene : APH1A Homo sapiens

Name  ? aph-1 homolog A, gamma-secretase subunit Cytological Location  1q21.2
Brief Description  aph-1 homolog A, gamma-secretase subunit
description  This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]
  • synonyms:
  • uc001etz.3,
  • APH1A gamma secretase subunit,
  • APH-1,
  • APH-1A,
  • NM_016022,
  • APH-1A,
  • AF151835,
  • CGI-78,
  • APH1A,
  • HGNC:29509,
  • anterior pharynx defective 1 homolog A (C. elegans),
  • OTTHUMG00000012545,
  • 6530402N02Rik,
  • CGI-78
  • identifiers:
  • 51107,
  • ENSG00000117362,
  • APH1A

Genome feature

Region: gene ? Length: 16781  
Location: 1:150265399-150282179 reverse strand Cyto location: 1q21.2


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Disease

0 Diseases

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Other

27 SN Ps

5 Cross References

16 Data Sets

5 Homologues

0 Located Features

90 Rna Seq Results