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Ovarian Kaleidoscope Database (OKdb)

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HPMR

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7-Dehydrocholesterol reductase OKDB#: 427
 Symbols: DHCR7 Species: rat
 Synonyms: mRNA for 7-dehydrocholesterol reductase  Locus:


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General Comment 7-dehydrocholesterol reductase is an enzyme that has been implicated in both cholesterol biosynthesis and developmental abnormalities in mammals. Rat DHCR, calculated molecular mass of 54.15-kDa polypeptide, shares a close amino acid identity with mouse and human DHCRs (96 and 87%, respectively)(Bae et al 1999 ). Inherited enzymatic deficiency of 7-dehydrocholesterol-delta7-reductase causes Smith-Lemli-Opitz syndrome (SLO) results cholesterol deficiency. It comprises a characteristic combination of facial features, malformations, and mental retardation ( Nowaczyk et al ).

General function Metabolism, Enzyme, Oxidoreductase
Comment
Cellular localization Plasma membrane
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment mRNA is expressed in rat ovarian library
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
Recent Publications
['http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=228', 'http://www.ncbi.nlm.nih.gov/UniGen
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created: Jan. 31, 2000, midnight by: kmwasson   email:
home page:
last update: July 18, 2001, 2:16 p.m. by: kmwasson    email:



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