Literature summary for 1.14.14.32 extracted from

Martin, R.M.; Oliveira, P.S.; Costa, E.M.; Arnhold, I.J.; Mendonca, B.B.
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling (2008), Arq. Bras. Endocrinol. Metabol., 52, 1317-1320.

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Application

Application	Comment	Organism
medicine	combined 17alpha-hydroxyprogesterone aldolase/17,20-lyase deficiency is a rare, autosomal recessive form of congenital adrenal hyperplasia	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	25 bp duplication at exon 5 resulting on in ineffective and truncated protein	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
microsome	-	Homo sapiens	-	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
leukocyte	peripheral blood leukocyte	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
17alpha-hydroxyprogesterone aldolase	-	Homo sapiens
17alpha-hydroxyprogesterone aldolase/17,20-lyase	-	Homo sapiens
CYP17	-	Homo sapiens
cytochrome P450c17	-	Homo sapiens
P450c17	-	Homo sapiens

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Release 2023.1 (January 2023)