| Gene Symbol |
APH1B
|
| Entrez Gene |
83464
|
| Alt Symbol |
APH-1B, PRO1328, PSFL, TAAV688
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
APH1B gamma secretase subunit
|
| Other Description |
anterior pharynx defective 1 homolog B|aph-1beta|gamma-secretase subunit APH-1B
|
| Swissprots |
Q9H0S0 A8K589 Q8WW43 Q564N3 Q6UWQ1
|
| Accessions |
EAW77644 EAW77645 Q8WW43 AA808355 AB189172 BAD95573 AB197122 BAE02660 AF508794 AAN63817 AI693802 AK057677 AK291204 BAF83893 AK307456 AK307725 AK310843 AL136671 CAB66606 AM392724 CAL37602 AM392878 CAL37756 AY358698 AAQ89061 BC020905 AAH20905 BI825203 DA397427 DQ891401 ABM82327 XM_011522105 XP_011520407 NM_001145646 NP_001139118 NM_031301 NP_112591
|
| Function |
Probable 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. Probably present in a minority of gamma-secretase complexes compared to APH1A. {ECO:0000269|PubMed:12297508}.
|
| Subcellular Location |
Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
|
| Tissue Specificity |
Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, colon, skeletal muscle, heart and brain. {ECO:0000269|PubMed:12740439}.
|
| Top Pathways |
Notch signaling pathway, Alzheimer's disease
|