DHCR24

GENERAL INFORMATION

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Gene name

DHCR24

Gene description

24-dehydrocholesterol reductase

Protein class

Cytoskeleton related proteins
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in a subset of tissues including hepatocytes, adrenal gland and Leydig cells.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA063005 , CAB037247
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

p32.3

Chromosome location (bp)

54849633 - 54887218

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116133 (version 78.38)

Entrez gene

1718

UniProt

Q15392 (UniProt - Evidence at protein level)

neXtProt

NX_Q15392

Antibodypedia

DHCR24 antibodies


PROTEIN BROWSER

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ENST00000371269
 
ENST00000436604
 
ENST00000535035
 
 
 
 


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
Show » 154 18.1 No 0
DHCR24-201 ENSP00000440191
ENST00000535035
Q3LIE7
Show all »
Show » Show » 427 49.4 No 0