24-dehydrocholesterol reductase

24-dehydrocholesterol reductase
24-dehydrocholesterol reductase
Identifiers
Symbols DHCR24; DCE; KIAA0018; 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_053272.2
RefSeq (protein) NP_055577 NP_444502.2
Location (UCSC) Chr 1:
55.32 – 55.35 Mb
Chr 4:
106.23 – 106.26 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]

References

Further reading




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