DHCR24

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. [provided by RefSeq, Jul 2008]

Description

24-dehydrocholesterol reductase

Tissue specificity

Tissue enhanced (adrenal gland, liver)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (54849627 - 54887195)

Ensembl ID

ENSG00000116133  (ver. 103.38)

Orthologs

Mouse Dhcr24: ENSMUSG00000034926

UniProt

Q15392

neXtProt

NX_Q15392

Human splice variants
Mouse splice variants

Protein structure