Cholesterol-25-Hydroxylase (CH25H)

h25OH; Cholesterol 25-monooxygenase

SPN	Q454
HGNC	1907
MGI	1333869
PubMed	22999953
RGD	1310575
UniProt	O95992

CH25H is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. The deduced 272-amino acid peptide has characteristics of a polytopic membrane protein and contains clusters of histidine residues essential for catalytic activity. Northern blot analysis showed very low levels of cholesterol 25-hydroxylase mRNA in 16 different tissues. Immunohistochemistry detected cholesterol 25-hydroxylase in the endoplasmic reticulum and a perinuclear compartment of transfected cells.

Reference

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J. Biol. Chem. 273:34316-34327(1998) [PubMed] [Europe PMC] [Abstract]

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease."
Neurobiol. Aging 25:1305-1308(2004) [PubMed] [Europe PMC] [Abstract]

"Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease."
Neurosci. Lett. 391:142-146(2006) [PubMed] [Europe PMC] [Abstract]