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Gene Review:

AKR1D1 - aldo-keto reductase family 1, member D1

Homo sapiens

Synonyms: 3-oxo-5-beta-steroid 4-dehydrogenase, 3o5bred, Aldo-keto reductase family 1 member D1, CBAS2, Delta(4)-3-ketosteroid 5-beta-reductase, ...

Lemonde, H.A. et al., Charbonneau, A. et al.

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Disease relevance of AKR1D1

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy [1].

High impact information on AKR1D1

METHODS: DNA was extracted from blood and the nine exons of SRD5B1 were amplified and sequenced [1].
AIMS: Our aim was to identify mutations in the SRD5B1 gene in patients in whom chenodeoxycholic acid and cholic acid were absent or present at low concentrations in plasma and urine, as these seemed strong candidates for genetic 5beta-reductase deficiency [1].
Assignment of steroid 5beta-reductase (SRD5B1) and its pseudogene (SRD5BP1) to human chromosome bands 7q32-->q33 and 1q23-->q25, respectively, by in situ hybridization [2].

References

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Lemonde, H.A., Custard, E.J., Bouquet, J., Duran, M., Overmars, H., Scambler, P.J., Clayton, P.T. Gut (2003) [Pubmed]
Assignment of steroid 5beta-reductase (SRD5B1) and its pseudogene (SRD5BP1) to human chromosome bands 7q32-->q33 and 1q23-->q25, respectively, by in situ hybridization. Charbonneau, A., Luu-The, V. Cytogenet. Cell Genet. (1999) [Pubmed]

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