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Gene : DHCR7 Homo sapiens

Name  ? 7-dehydrocholesterol reductase Cytological Location  11q13.4
Brief Description  7-dehydrocholesterol reductase
description  This 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 cognitive disability, 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]
  • synonyms:
  • SLOS,
  • NM_001360,
  • Smith-Lemli-Opitz syndrome,
  • AF034544,
  • uc001oql.4,
  • OTTHUMG00000167346,
  • SLOS,
  • DHCR7,
  • HGNC:2860
  • identifiers:
  • 1717,
  • ENSG00000172893,
  • DHCR7

Genome feature

Region: gene ? Length: 14021  
Location: 11:71434411-71448431 reverse strand Cyto location: 11q13.4


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Proteins

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SNPs

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Disease

1 Diseases

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Expression

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Other

400 SN Ps

5 Cross References

19 Data Sets

16 Homologues

0 Located Features

90 Rna Seq Results