1. Gene
  2. CH25H - cholesterol 25-hydroxylase Gene

CH25H - cholesterol 25-hydroxylase Gene

Homo sapiens

Also known as C25H

Gene ID: 9023 | Gene type: protein coding

About CH25H

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:89,205,629-89,207,317 (from NCBI)

This gene has 1 transcript (splice variant), 210 orthologues and 3 paralogues.

Summary

This 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. [provided by RefSeq, Jul 2008]

CH25H Products(1)

mRNA Protein Name
NM_003956.4 NP_003947.1 cholesterol 25-hydroxylase

CH25H Protein Structure

FA_hydroxylase

FA_hydroxylase: Fatty acid hydroxylase superfamily (129 - 244)

  • 0
  • 100
  • 200
  • 272 a.a.
Protein Preferred Names Protein Names

cholesterol 25-hydroxylase

cholesterol 25-monooxygenase

Related Diseases

Diseases Alias
Lysosomal Acid Lipase Deficiency

Wolman Disease

Cholesteryl Ester Storage Disease

Lal Deficiency

Lipa Deficiency

Cholesterol Ester Storage Disease

CESD

Cholesterol Ester Hydrolase Deficiency

Acid Lipase Deficiency

Acid Esterase Deficiency

Familial Xanthomatosis

Wolman Xanthomatosis

Wolman'S Disease

Wolman'S Or Triglyceride Storage Type Iii Disease

Xanthomatosis, Familial

Liposomal Acid Lipase Deficiency, Wolman Type

Familial Visceral Xanthomatosis

Primary Familial Xanthomatosis

Primary Familial Xanthomatosis With Adrenal Calcification

Acid Lipase Disease

WOD

Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Lysosomal And Lipase Deficiency
Cerebrotendinous Xanthomatosis

CTX

Cerebral Cholesterinosis

Cholestanol Storage Disease

Xanthomatosis, Cerebrotendinous

Sterol 27-Hydroxylase Deficiency

Xanthomatosis Cerebrotendinous

Cerebrotendinous Cholesterinosis

Cholestanolosis

Van Bogaert-Scherer-Epstein Disease

Cholesterol Ester Storage Disease
Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta CH25H VGNC VGNC:106022
Rattus norvegicus CH25H RGD RGD:1310575
Mus musculus CH25H MGD MGI:1333869
Canis familiaris CH25H VGNC VGNC:52926
Bos taurus CH25H VGNC VGNC:27261