background:
APH1a is an essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Belongs to the APH-1 family.
Function:
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex.
Subcellular Location:
Endoplasmic reticulum membrane.
Tissue Specificity:
Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. Isoform 1 and isoform 2 are nearly expressed at the same level.
Similarity:
Belongs to the APH-1 family.
Database links:
Entrez Gene: 539247 Cow
Entrez Gene: 483181 Dog
Entrez Gene: 51107 Human
Entrez Gene: 226548 Mouse
Entrez Gene: 365872 Rat
Omim: 607629 Human
SwissProt: Q96BI3 Human
SwissProt: Q8BVF7 Mouse
Unigene: 101688 Human
Unigene: 306954 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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