DHCR24

Chr 1

24-dehydrocholesterol reductase

Also known as: DCE, Nbla03646, SELADIN1, seladin-1

NCBI Gene: 1718 ENSG00000116133 UniProt: Q15392

The protein is a FAD-dependent oxidoreductase that catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis in the endoplasmic reticulum. Mutations cause desmosterolosis, a cholesterol biosynthesis disorder that typically presents in infancy with developmental delay, seizures, and distinctive facial features. The condition follows autosomal recessive inheritance.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDesmosterolosis

Clinical highlights

Gene-disease validity (ClinGen)

desmosterolosis · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.52

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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