gamma-secretase subunit APH-1A (anterior pharynx defective 1 homolog A, presenilin stabilization factor, APH1A, PSF, CGI-78, UNQ579/PRO1141)

Function

• part of APP gamma-secretase complex
• probably stabilizing cofactor

Structure

belongs to the APH-1 family

Compartment

• predominantly located in endoplasmic reticulum & cis-Golgi

Alternative splicing

named isoforms=2

Expression

• widely expressed
• expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart & brain
• isoform 1 & isoform 2 are nearly expressed at the same level

More general terms

• Aph-1 protein

Database

• OMIM: https://mirror.omim.org/entry/607629
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5110
• UniProt: http://www.uniprot.org/uniprot/Q96BI3.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=51107