Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | DHCR7 | contributors: mct - updated : 22-01-2020 |
HGNC name | 7-dehydrocholesterol reductase |
HGNC id | 2860 |
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Corresponding disease |
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Location | 11q13.4 Physical location : 71.145.458 - 71.159.477 | ||
Synonym name | |||
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Synonym symbol(s) | RSH, DHC7, D7SR | ||
EC.number | 1.3.1.21 |
DNA |
TYPE | functioning gene |
STRUCTURE | 14.02 kb 9 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
Map | cen - D11S922 - D11S1350 - D11S913 - DHCR7 - D11S916 - D11S901 - D11S1354 - qter |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES | Hydrophobic | |
STRUCTURE |
HOMOLOGY |
interspecies | homolog to murine Dhcr7 |
Homologene |
FAMILY | |
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CATEGORY | enzyme , transport |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | electron transport |
PATHWAY |
metabolism | lipid/lipoprotein |
signaling |
catalyzing the ultimate step of cholesterol biosynthesis |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
cell & other |
REGULATION |
Other | phosphorylation plays a role in controlling DHCR7 activity, which may provide a means to divert flux from cholesterol synthesis to vitamin D production |
ASSOCIATED DISORDERS |
corresponding disease(s) | SLOS |
Susceptibility |
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Variant & Polymorphism SNP | |
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Candidate gene
Marker
| Therapy target
| statins increases DHCR7 expression in SLOS (if any residual activity is present) |
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ANIMAL & CELL MODELS |
murine modele of SLOS |