Description
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, 1 bp deletion in exon 1 and 1 bp insertion in exon 1 and 7 bp deletion in exon 1,
Disease:Adenocarcinoma
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-APH1A, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
The APH1a protein also known as Anterior Pharynx-1a plays a mechanical role as a part of the gamma-secretase complex. It has a mass of approximately 29 kDa. APH1a is expressed in various tissues with a high presence in brain regions and other human tissues. As a gamma-secretase component APH1a contributes to the intramembrane proteolysis of type I transmembrane proteins such as the Notch receptor and amyloid precursor protein (APP).
Biological function summary
As part of the gamma-secretase complex the APH1a protein facilitates intra-membrane cleavage processes. It associates with other key complex members like presenilin nicastrin and PEN-2. This complex's activity is important for the proper functioning of the Notch signaling pathway and amyloid-beta production both of which have important roles in cell differentiation and signaling in various organisms.
Pathways
APH1a is directly implicated in both the Notch signaling and amyloid precursor protein pathways. These are significant pathways impacting cellular communication and plaque formation in the brain. APH1a's interaction with proteins such as presenilin and nicastrin highlights its broader regulatory role particularly influencing developmental processes through Notch signaling and contributing to amyloid-beta genesis in neurobiological contexts.
Researchers associate APH1a with neurodegenerative diseases such as Alzheimer's disease and cancer. In Alzheimer's its role in the gamma-secretase complex impacts amyloid-beta production a substance linked to the neurodegenerative process. Additionally alterations in the Notch signaling pathway involving APH1a and related proteins like presenilin may contribute to certain cancers due to its influence on cell proliferation and differentiation. Understanding APH1a's interactions and functions offers valuable insights into these disease mechanisms.
