Title : Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Pub. Date : 1989 Oct 25

PMID : 2808364






1 Functional Relationships(s)
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1 The CYP17 gene from an individual having partial combined 17 alpha-hydroxylase/17,20-lyase deficiency has been characterized structurally and the homozygous mutation found to be the deletion of the phenylalanine codon (TTC) at either amino acid position 53 or 54 in exon 1. Phenylalanine cytochrome P450 family 17 subfamily A member 1 Homo sapiens