Literature summary for 1.14.14.19 extracted from

Lee, L.S.; Shu, W.J.; Wu, C.M.; Hsieh, C.H.; Chen, S.M.; Hu, C.J.; Chen, W.Y.; Chung, B.C.
A novel compound heterozygous mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 causes 17alpha-hydroxylase deficiency (2006), Mol. Cell. Endocrinol., 249, 16-20.

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Protein Variants

Protein Variants	Comment	Organism
additional information	mutation of K494_V495 deletion plus R496L and D487_F489 deletion in extreme C-terminus of cytochrome P450c17 identified in a female patient results in complete loss of enzyme activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	female patient with enzyme deficiency	-

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Release 2023.1 (January 2023)