24-dehydrocholesterol reductase

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24-dehydrocholesterol reductase
Identifiers
Symbols DHCR24 ; DCE; Nbla03646; SELADIN1; seladin-1
External IDs OMIM606418 MGI1922004 HomoloGene8850 GeneCards: DHCR24 Gene
EC number 1.3.1.72
RNA expression pattern
PBB GE DHCR24 200862 at tn.png
More reference expression data
Orthologs
Species Human Mouse
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:
55.32 – 55.35 Mb
Chr 4:
106.56 – 106.59 Mb
PubMed search [1] [2]

24-dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene.[1][2]

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.[2]

Model organisms[edit]

Model organisms have been used in the study of DHCR24 function. A conditional knockout mouse line, called Dhcr24tm1a(EUCOMM)Wtsi[7][8] 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.[9][10][11]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[5][12] Twenty-six tests were carried out on mutant mice and two significant abnormalities were observed.[5] 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 abmornalities were observed.[5]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: DHCR24 24-dehydrocholesterol reductase". 
  3. ^ "Salmonella infection data for Dhcr24". Wellcome Trust Sanger Institute. 
  4. ^ "Citrobacter infection data for Dhcr24". Wellcome Trust Sanger Institute. 
  5. ^ a b c d 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. 
  6. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  7. ^ "International Knockout Mouse Consortium". 
  8. ^ "Mouse Genome Informatics". 
  9. ^ 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.  edit
  10. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  11. ^ 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. 
  12. ^ 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[edit]