DHCR7

GENE INFORMATION

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Gene name

DHCR7 (HGNC Symbol)

Synonyms

SLOS

Description

7-dehydrocholesterol reductase (HGNC Symbol)

Entrez gene summary

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]

Chromosome

11

Cytoband

q13.4

Chromosome location (bp)

71428193 - 71452868

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000172893 (version 78.38)

Entrez gene

1717

UniProt

Q9UBM7 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBM7

Antibodypedia

DHCR7 antibodies
 

PROTEIN VIEW

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DHCR7-001
 
DHCR7-003
 
DHCR7-004
 
DHCR7-005
 
DHCR7-006
 
DHCR7-008
 
DHCR7-009
 
DHCR7-010
 
DHCR7-011
 
DHCR7-013
 
DHCR7-014
 
 » 
 
 
 
 

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)

DHCR7-001 ENSP00000347717
ENST00000355527
Q9UBM7
Show all »
Show » Show » 475 54.5 No >9
DHCR7-003 ENSP00000384739
ENST00000407721
Q9UBM7
Show all »
Show » Show » 475 54.5 No >9
DHCR7-004 ENSP00000432256
ENST00000534795
Show » Show » 116 13.8 No 2
DHCR7-005 ENSP00000436007
ENST00000527452
E9PRL8
Show all »
Show » 91 10.1 No 1
DHCR7-006 ENSP00000435047
ENST00000527316
E9PM00
Show all »
Show » Show » 258 29.2 No 4
DHCR7-008 ENSP00000435058
ENST00000529990
E9PLZ2
Show all »
Show » 73 8.2 No 1
DHCR7-009 ENSP00000432589
ENST00000531364
E9PQ71
Show all »
Show » 105 11.7 No 1
DHCR7-010 ENSP00000435707
ENST00000525346
E9PQ71
Show all »
Show » 107 12 No 1
DHCR7-011 ENSP00000435668
ENST00000526780
E9PJ54
Show all »
Show » 164 18.3 No 2
DHCR7-013 ENSP00000435956
ENST00000525137
H0YEJ5
Show all »
Show » Show » 245 27.6 No 3
DHCR7-014 ENSP00000435011
ENST00000533800
H0YE57
Show all »
Show » Show » 221 25.5 No 4