rs76542238

This is a variant in the PAH gene that changes a alanine to an aspartate.

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ClinVar annotation

Pathogenic★★★☆
8 submitters6 publications

PAH-related disorder; Phenylketonuria (PKU)

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About PAH

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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