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Phenylalanine hydroxylase (PAH) (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine.PAH is one of three members of the biopterin-dependent aromatic amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin (BH 4, a pteridine cofactor) and a non-heme iron for catalysis.
The PAH gene is located on chromosome 12 in the bands 12q22-q24.2. [22] As of 2000, around 400 disease-causing mutations had been found in the PAH gene. This is an example of allelic genetic heterogeneity .
The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex.
A Polycyclic aromatic hydrocarbon (PAH) is a class of organic compounds that is composed of multiple aromatic rings. Most are produced by the incomplete combustion of organic matter — by engine exhaust fumes, tobacco, incinerators, in roasted meats and cereals, [ 1 ] or when biomass burns at lower temperatures as in forest fires .
Chromosome 12 is one of the 23 pairs of chromosomes in humans.People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.
12168 Ensembl ENSG00000204217 ENSMUSG00000067336 UniProt Q13873 O35607 RefSeq (mRNA) NM_001204 NM_033346 NM_007561 RefSeq (protein) NP_001195 NP_031587 Location (UCSC) Chr 2: 202.38 – 202.57 Mb Chr 1: 59.8 – 59.92 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase encoded by the BMPR2 gene. It ...
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