Gene: LOC101927243

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GSAP

Alternate names for this Gene: PION

Gene Summary: 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]. ##Evidence-Data-START## Transcript exon combination :: BC110797.1, SRR1803614.70689.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000257626.12/ ENSP00000257626.7 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: gamma-secretase activating protein

Type of Gene: protein-coding