aldo-keto reductase family 1 member D1 isoform 1 [Homo sapiens]

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Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ(4)-3-Oxosteroid-5β-Reductase Deficiency. [J Mol Diagn. 2023]
Recurrent AKR1D1 c.580-13T>A Variant: A Cause of Δ(4)-3-Oxosteroid-5β-Reductase Deficiency.
Zhao J, Qiu YL, Wang L, Li ZD, Xie XB, Lu Y, Setchell KDR, Cheng Y, Xing QH, Wang JS. J Mol Diagn. 2023 Apr; 25(4):227-233. Epub 2023 Feb 4.
Differential activity and expression of human 5β-reductase (AKR1D1) splice variants. [J Mol Endocrinol. 2021]
Differential activity and expression of human 5β-reductase (AKR1D1) splice variants.
Appanna N, Gibson H, Gangitano E, Dempster NJ, Morris K, George S, Arvaniti A, Gathercole LL, Keevil B, Penning TM, et al. J Mol Endocrinol. 2021 Mar; 66(3):181-194.
AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease. [Metabolism. 2019]
AKR1D1 is a novel regulator of metabolic phenotype in human hepatocytes and is dysregulated in non-alcoholic fatty liver disease.
Nikolaou N, Gathercole LL, Marchand L, Althari S, Dempster NJ, Green CJ, van de Bunt M, McNeil C, Arvaniti A, Hughes BA, et al. Metabolism. 2019 Oct; 99:67-80. Epub 2019 Jul 19.

RefSeq genomic sequence
See the genomic reference sequence for the AKR1D1 gene (NG_023342.1).
RefSeq mRNA
See reference mRNA sequence for the AKR1D1 gene (NM_005989.4).
RefSeq protein isoforms
See 8 reference sequence protein isoforms for the AKR1D1 gene.

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NP_005980 [Domain Mapping of Disease Mut...]
NP_005980
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
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reagent reviews [ExactAntigen/Labome]
reagent reviews
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reagents [ExactAntigen/Labome]
reagents
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Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

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