This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
PAH-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
PAH-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
PAH-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
PAH-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
PAH-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
Gene Symbol : PAH
Gene Name : Phenylalanine hydroxylase
Chromosome : CHR 12: 102,917,602-102,838,325
Locus : 12q23.2
Alt. Genes : CELA3A
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