ID/Version |
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Sequence description from provider |
RecName: Full=7-dehydrocholesterol reductase {ECO:0000250|UniProtKB:Q9UBM7}; Short=7-DHC reductase; EC=1.3.1.21 {ECO:0000269|PubMed:11230174};AltName: Full=Cholesterol-5,6-epoxide hydrolase subunit DHCR7 {ECO:0000250|UniProtKB:Q9UBM7}; | ||||||||||||||
Provider | SWISS-PROT | ||||||||||||||
Sequence |
Polypeptide
471
aa
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Source | |||||||||||||||
Annotated genes and markers |
Follow the symbol links to get more information on the GO terms,
expression assays, orthologs, phenotypic alleles, and other information
for the genes or markers below.
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Sequence references in MGI |
J:48735
Fitzky BU, et al., Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8181-6
J:68084 Wassif CA, et al., Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. Hum Mol Genet. 2001 Mar 15;10(6):555-64 J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89 |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 03/25/2025 MGI 6.24 |
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