NP_001177835.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
32,890 Da
NCBI Official Full Name
3-oxo-5-beta-steroid 4-dehydrogenase isoform 2
NCBI Official Synonym Full Names
aldo-keto reductase family 1, member D1
NCBI Protein Information
3-oxo-5-beta-steroid 4-dehydrogenase
UniProt Protein Name
3-oxo-5-beta-steroid 4-dehydrogenase
UniProt Synonym Protein Names
Aldo-keto reductase family 1 member D1; Delta(4)-3-ketosteroid 5-beta-reductase; Delta(4)-3-oxosteroid 5-beta-reductase
UniProt Synonym Gene Names
UniProt Entry Name
AK1D1_HUMAN
NCBI Summary for AKR1D1
The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]
UniProt Comments for AKR1D1
AKR1D1: Efficiently catalyzes the reduction of progesterone, androstenedione, 17-alpha-hydroxyprogesterone and testosterone to 5-beta-reduced metabolites. The bile acid intermediates 7- alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4- cholesten-3-one can also act as substrates. Defects in AKR1D1 are the cause of congenital bile acid synthesis defect type 2 (CBAS2); also known as cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine. Belongs to the aldo/keto reductase family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Lipid Metabolism - androgen and estrogen; Lipid Metabolism - C21-steroid hormone; EC 1.3.1.3; Oxidoreductase; Lipid Metabolism - primary bile acid biosynthesis
Chromosomal Location of Human Ortholog: 7q32-q33
Cellular Component: cytosol
Molecular Function: delta4-3-oxosteroid 5beta-reductase activity; steroid binding
Biological Process: androgen metabolic process; bile acid biosynthetic process; bile acid catabolic process; bile acid metabolic process; C21-steroid hormone metabolic process; cholesterol catabolic process; digestion
Disease: Bile Acid Synthesis Defect, Congenital, 2
Research Articles on AKR1D1
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Products associated with anti-AKR1D1 antibody
Pathways associated with anti-AKR1D1 antibody
Diseases associated with anti-AKR1D1 antibody
Organs/Tissues associated with anti-AKR1D1 antibody
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