24-Dehydrocholesterol reductase

24-Dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene.[5][6]

DHCR24
Identifiers
AliasesDHCR24, DCE, Nbla03646, SELADIN1, seladin-1, 24-dehydrocholesterol reductase
External IDsOMIM: 606418; MGI: 1922004; HomoloGene: 8850; GeneCards: DHCR24; OMA:DHCR24 - orthologs
EC number1.3.1.72
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014762

NM_053272

RefSeq (protein)

NP_055577

NP_444502

Location (UCSC)Chr 1: 54.85 – 54.89 MbChr 4: 106.42 – 106.45 Mb
PubMed search[3][4]
Wikidata
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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.[6]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000116133Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034926Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ (Sep 2001). "Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis". Am J Hum Genet. 69 (4): 685–94. doi:10.1086/323473. PMC 1226055. PMID 11519011.
  6. ^ a b "Entrez Gene: DHCR24 24-dehydrocholesterol reductase".
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Further reading

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