Abcam, ab266261, Human PCBD1 knockout HEK-293T cell line

Size: 2 x 1000000Cells / vial / 1000000Cells / vial
PCBD1 KO cell line available to order. KO validated by Western blot. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, Homozygous: Insertion of the selection cassette in exon 2. To order both knockout and wild-type control cells: select 2 x 1000000Cells/vial. To order only knockout cells: select 1000000Cells/vial.
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, Homozygous: Insertion of the selection cassette in exon 2

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-PCBD1, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, Zygosity-Homozygous, 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.
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.