Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Knockout achieved by using CRISPR/Cas9, Insertion of the selection cassette in exon2.
Product details:
Knockout cell lysate achieved by CRISPR/Cas9.
REACH authorisation
Abcam has not and does not intend to apply for the REACH Authorisation of customers' uses of products that contain European Authorisation list (Annex XIV) substances.
It is the responsibility of our customers to check the necessity of application of REACH Authorisation, and any other relevant authorisations, for their intended uses.
Lysate preparation:
Our lysates are made using RIPA buffer to which we add a protease inhibitor cocktail and phosphatase inhibitor cocktail (ratio: 300:100:10).
This means that the protein of interest is denatured.
If you require a native form of the protein please use the live cell version. Please refer to our lysis protocol for further details on how our lysates are prepared.
User storage instructions:
Lyophilizate may be stored at 4°C. After reconstitution, store at -20°C for short-term storage or -80°C for long-term storage.
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-PCBD1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, Shipped at conditions-Ambient - Can Ship with Ice, Appropriate short-term storage conditions--20°C, Appropriate long-term storage conditions--20°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
PCBD1 also known as pterin-4-alpha-carbinolamine dehydratase or DCOH is a bifunctional protein with a molecular weight of approximately 12 kDa. It can be found expressed in a variety of tissues with significant expression noted in the liver and kidney. PCBD1 serves a dual role functioning both in enzymatic activity and as a co-regulator in transcription processes. Its enzymatic role involves catalyzing the dehydration of 4-alpha-hydroxy-tetrahydrobiopterin (BH4) an essential cofactor in the synthesis of neurotransmitters.
Biological function summary
PCBD1 interacts with tetrahydrobiopterin metabolism participating in neurotransmitter synthesis through its dehydratase function. It also acts as a dimerization cofactor for HNF1 (HNF1A) a transcription factor critical in gene regulation. The PCBD1 protein forms dimers or tetramers indicating its capability to participate in complex formation which enhances transcriptional regulation. This regulatory activity affects several genes involved in hepatic metabolism and development.
Pathways
PCBD1 primarily influences the tetrahydrobiopterin biosynthesis pathway and the regulation of gene expression pathway via HNF1A. By facilitating neurotransmitter production it indirectly plays a role in neurological pathways specifically those related to dopamine and serotonin synthesis. Through its transcriptional co-regulation with HNF1A PCBD1 impacts glucose metabolism and pancreatic functions linking it to metabolic pathways.
Mutations or malfunctions of PCBD1 have associations with hyperphenylalaninemia a disorder affecting amino acid metabolism and with certain hyperinsulinemia forms influencing insulin regulation. Deficiencies in PCBD1 enzymatic function lead to altered levels of tetrahydrobiopterin while disruptions in its transcription co-regulation relate to impairments in glucose metabolism. Both HNF1A and PCBD1 mutations highlight their interconnected role in these conditions.
