This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex.
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofact
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}.
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Notch signaling pathway","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","Amyloid fiber formation","NOTCH3 Activation and Transmission of Signal to the Nucleus","Nuclear signaling by ERBB4","EPH-ephrin mediated repulsion of cells","Regulated proteolysis of p75NTR","NRIF signals cell death from the nucleus","Noncanonical activation of NOTCH3"]
["Notch signaling pathway","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","Amyloid fiber formation","NOTCH3 Activation and Transmission of Signal to the Nucleus","Nuclear signaling by ERBB4","EPH-ephrin mediated repulsion of cells","Regulated proteolysis of p75NTR","NRIF signals cell death from the nucleus","Noncanonical activation of NOTCH3"]
["Notch signaling pathway","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","Amyloid fiber formation","NOTCH3 Activation and Transmission of Signal to the Nucleus","Nuclear signaling by ERBB4","EPH-ephrin mediated repulsion of cells","Regulated proteolysis of p75NTR","NRIF signals cell death from the nucleus","Noncanonical activation of NOTCH3"]
["Notch signaling pathway","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","NOTCH3 Activation and Transmission of Signal to the Nucleus","Nuclear signaling by ERBB4","EPH-ephrin mediated repulsion of cells","Regulated proteolysis of p75NTR","NRIF signals cell death from the nucleus","Noncanonical activation of NOTCH3"]
["Notch signaling pathway","Constitutive Signaling by NOTCH1 PEST Domain Mutants","Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants","NOTCH3 Activation and Transmission of Signal to the Nucleus","Nuclear signaling by ERBB4","EPH-ephrin mediated repulsion of cells","Regulated proteolysis of p75NTR","NRIF signals cell death from the nucleus","Noncanonical activation of NOTCH3"]
1
["Disgenet (Alzheimer disease)"]
Diseases Linked via Similar GenesDiseases curated for genes most similar to APH1B (see Related Genes above), that are NOT already directly curated for APH1B itself -- a lead worth checking, not a confirmed association.