Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Knockout achieved by using CRISPR/Cas9, 1 bp insertion in exon 3 and Insertion of the selection cassette in exon 3
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-ALAS1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, 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.
'Alas1' also known as 5-Aminolevulinic acid synthase 1 is a mitochondrial enzyme with a mass of approximately 64 kDa. This enzyme plays an important role in heme biosynthesis catalyzing the first step in the pathway by converting glycine and succinyl-CoA to 5-aminolevulinic acid. Unfortunately it does not function alone and often requires the presence of pyridoxal phosphate as a cofactor. 'Alas1' is ubiquitously expressed in a variety of tissues including liver and bone marrow where heme production is critical.
Biological function summary
'Alas1' serves as a rate-limiting enzyme in the heme synthesis pathway. Being the first step it sets the pace for the entire process. It does not form part of any larger protein complex and operates with its required cofactors. Beyond metabolic roles its regulation influences several cellular processes ensuring heme availability precisely matches cellular demand.
Pathways
'Alas1' performs a fundamental role in the mitochondrial heme biosynthesis pathway. This pathway is essential for synthesizing heme a component critical to various cellular functions such as oxygen transport and electron transfer. 'Alas1' interacts with proteins like ferrochelatase the enzyme completing the heme biosynthesis pathway. Coordination between 'Alas1' and other proteins ensures efficient production of heme enabling proper cellular function and adaptation to changes in cellular and systemic conditions.
'Alas1' is involved in conditions such as acute intermittent porphyria and certain anemias. Its dysregulation can lead to impaired heme production with downstream effects on cell metabolism and organ function. 'Alas1' has been shown to interact with HMBS (hydroxymethylbilane synthase) a protein linked to different types of porphyria. Understanding its role in these conditions could lead to targeted therapies that modulate its activity to alleviate symptoms or correct underlying biochemical dysfunctions.
