DHCR24

GENE INFORMATION

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Gene name

DHCR24 (HGNC Symbol)

Synonyms

KIAA0018, seladin-1

Description

24-dehydrocholesterol reductase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1 (Chromosome progress)

Cytoband

p32.3

Chromosome location (bp)

55315306 - 55352891

Ensembl

ENSG00000116133 (version 73.37)

Entrez gene

1718

UniProt

Q15392 (UniProt - Evidence at protein level)

neXtProt

NX_Q15392

Antibodypedia

DHCR24 antibodies
 

PROTEIN VIEW

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DHCR24-001
 
DHCR24-002
 
DHCR24-201
 
DHCR24-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DHCR24-001 ENSP00000360316
ENST00000371269
Q15392
Show all »
Show » Show » 516 60.1 No 2
DHCR24-002 ENSP00000416585
ENST00000436604
154 18.1 No 0
DHCR24-201 ENSP00000440191
ENST00000535035
B7Z817
Show all »
Show » Show » 475 54.7 No 0
DHCR24-202 ENSP00000439852
ENST00000537443
F5H0H1
Show all »
Show » Show » 300 34.6 No 0