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Gene : DHCR24 Homo sapiens

Name  ? 24-dehydrocholesterol reductase Cytological Location  1p32.3
Brief Description  24-dehydrocholesterol reductase
description  This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
  • synonyms:
  • KIAA0018,
  • Nbla03646,
  • AF261758,
  • NM_014762,
  • DHCR24,
  • Delta(24)-sterol reductase,
  • desmosterol-to-cholesterol enzyme,
  • HGNC:2859,
  • seladin-1,
  • DCE,
  • uc001cyc.2,
  • DCE,
  • OTTHUMG00000009989,
  • SELADIN1,
  • seladin-1
  • identifiers:
  • 1718,
  • ENSG00000116133,
  • DHCR24

Genome feature

Region: gene ? Length: 37622  
Location: 1:54849627-54887248 reverse strand Cyto location: 1p32.3


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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

540 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results