Literature summary for 1.3.1.3 extracted from

Ueki, I.; Kimura, A.; Chen, H.L.; Yorifuji, T.; Mori, J.; Itoh, S.; Maruyama, K.; Ishige, T.; Takei, H.; Nittono, H.; Kurosawa, T.; Kage, M.; Matsuishi, T.
SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency (2009), J. Gastroenterol. Hepatol., 24, 776-785.

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Cloned(Commentary)

Cloned (Comment)	Organism
gene SRD5B1, DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
G223E	the naturally occuring mutation of gene SRD5B1 are involved in hyper-3-oxo-DELTA4 bile aciduria from primary 3-oxo-DELTA4-steroid 5beta-reductase deficiency, phenotypes, overview	Homo sapiens
R217stop	the naturally occuring mutation of gene SRD5B1 are involved in hyper-3-oxo-DELTA4 bile aciduria from primary 3-oxo-DELTA4-steroid 5beta-reductase deficiency, phenotypes, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P51857	gene SRD5B1	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
liver	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
3-oxo-DELTA4-steroid 5beta-reductase	-	Homo sapiens
AKR1D1	-	Homo sapiens

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Release 2023.1 (January 2023)