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LMP002707

Record overview

LMPD IDLMP002707
Gene ID1717
SpeciesHomo sapiens (Human)
Gene Name7-dehydrocholesterol reductase
Gene SymbolDHCR7
SynonymsSLOS
Alternate names7-dehydrocholesterol reductase; 7-DHC reductase; sterol delta-7-reductase; putative sterol reductase SR-2; delta-7-dehydrocholesterol reductase
Chromosome11
Map Location11q13.4
EC Number1.3.1.21
SummaryThis gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
OrthologsView orthologs and multiple alignments for DHCR7

Proteins

7-dehydrocholesterol reductase
Refseq ID:NP_001351
Protein GI:119943112
UniProt ID:Q9UBM7
mRNA ID:NM_001360
Length:475
RefSeq Status:REVIEWED
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLY
TLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGY
FFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFW
GVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
 
7-dehydrocholesterol reductase
Refseq ID:NP_001157289
Protein GI:255308875
UniProt ID:Q9UBM7
mRNA ID:NM_001163817
Length:475
RefSeq Status:REVIEWED
Protein sequence is identical to GI:119943112 (mRNA isoform)