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
EC number1.3.1.72
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p32.3Start54,849,627 bp[1]
End54,887,195 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1718

74754

Ensembl

ENSG00000116133

ENSMUSG00000034926

UniProt

Q15392

Q8VCH6

RefSeq (mRNA)

NM_014762

NM_053272

RefSeq (protein)

NP_055577

NP_444502

Location (UCSC)Chr 1: 54.85 – 54.89 MbChr 4: 106.56 – 106.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Model organisms

Model organisms have been used in the study of DHCR24 function. A conditional knockout mouse line, called Dhcr24tm1a(EUCOMM)Wtsi[11][12] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[13][14][15]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[9][16] Twenty-six tests were carried out on mutant mice and two significant abnormalities were observed.[9] Few homozygous mutant embryos were identified during gestation, and none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and no further abnormalities were observed.[9]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000116133 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000034926 - Ensembl, 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. "Entrez Gene: DHCR24 24-dehydrocholesterol reductase".
  7. "Salmonella infection data for Dhcr24". Wellcome Trust Sanger Institute.
  8. "Citrobacter infection data for Dhcr24". Wellcome Trust Sanger Institute.
  9. White JK, Gerdin AK, Karp NA, et al. (July 2013). "Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  10. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  11. "International Knockout Mouse Consortium".
  12. "Mouse Genome Informatics".
  13. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  14. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  15. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  16. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading


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