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Gene : GSAP Homo sapiens

Name  ? gamma-secretase activating protein Cytological Location  7q11.23
Brief Description  gamma-secretase activating protein
description  Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]
  • synonyms:
  • pigeon homolog (Drosophila),
  • uc003ugf.3,
  • PION,
  • LOC54103,
  • GSAP,
  • HGNC:28042,
  • PION,
  • OTTHUMG00000150504,
  • NM_017439
  • identifiers:
  • 54103,
  • ENSG00000186088,
  • GSAP

Genome feature

Region: gene ? Length: 105669  
Location: 7:77310751-77416419 reverse strand Cyto location: 7q11.23


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Function

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0 Pathways

Gene --> GO terms.

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)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

2011 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results