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
ASSOCIATED DISORDERS
corresponding disease(s) SLOS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --other  
  • cholesterol metabolic aberrations, induced through disruption of either DHCR7 or INSIG1 and INSIG2 , result in osteoblast differentiation abnormalities
  • Susceptibility
  • to vitamin D deficiency in Uygur and Kazak ethnic populations
  • to increased risk of thyroid cancer
  • to rheumatoid arthritis (RA)
  • Variant & Polymorphism SNP
  • DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
  • DHCR7 polymorphisms may be associated with an increased risk of thyroid cancer due to an effect of this gene on circulating vitamin D levels
  • SNPs in the DHCR7/NADSYN1 locus showed evidence of positive association with RA, rs4944076
  • Candidate gene
    Marker
    Therapy target statins increases DHCR7 expression in SLOS (if any residual activity is present)
    SystemTypeDisorderPubmed
    metabolismlipid 
    statins increases DHCR7 expression in SLOS (if any residual activity is present)
    ANIMAL & CELL MODELS
    murine modele of SLOS