2. Gene
  3. APH1B - aph-1 homolog B, gamma-secretase subunit Gene

APH1B - aph-1 homolog B, gamma-secretase subunit Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PSFL; APH-1B; PRO1328; TAAV688; aph-1beta

Gene ID: 83464 | Gene type: protein coding

About APH1B

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:63,277,605-63,309,126 (from NCBI)

This gene has 10 transcripts (splice variants), 192 orthologues and 1 paralogue. Broad expression in testis (RPKM 23.1), thyroid (RPKM 13.1) and 22 other tissues.

Summary

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. The gamma-secretase complex catalyzes the cleavage of integral proteins such as Notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]

APH1B Products(2)

mRNA Protein Name
NM_001145646.2 NP_001139118.1 gamma-secretase subunit APH-1B isoform 2
NM_031301.4 NP_112591.2 gamma-secretase subunit APH-1B isoform 1

APH1B Protein Structure

Aph-1

Aph-1: Aph-1 protein (2 - 245)

  • 0
  • 100
  • 200
  • 257 a.a.
Protein Preferred Names Protein Names

gamma-secretase subunit APH-1B

APH1B gamma secretase subunit

Related Diseases

Diseases Alias
Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures

Dark Dot Disease

Reticulate Acropigmentation Of Kitamura

Dowling-Degos Kitamura Disease

Kitamura Reticulate Acropigmentation

Ddd

Dowling-Degos-Kitamura Disease

Reticular Pigmented Anomaly Of Flexures
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-156011 PSEN1-IN-1 Inhibitor / Unkown
HY-156012 PSEN1-IN-2 Inhibitor / Unkown
HY-RS00818 APH1B Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris APH1B VGNC VGNC:58291
Bos taurus APH1B VGNC VGNC:26014
Rattus norvegicus APH1B RGD RGD:1562468
Macaca mulatta APH1B VGNC VGNC:69891
Mus musculus APH1B MGD MGI:3522097
Felis catus APH1B VGNC VGNC:104358