Property Summary

NCBI Gene PubMed Count 83
Grant Count 110
R01 Count 56
Funding $21,757,304.87
PubMed Score 256.96
PubTator Score 198.42

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9UBM7 B2R6Z2 O60492 O60717 7-DHC reductase
Symbols SLOS

Gene

PANTHER Protein Class (2)

Gene RIF (61)

PMID Text
26887953 these findings highlight DHCR7 as an important regulatory switch between cholesterol and vitamin D synthesis.
26383826 The aim of this study was to investigate the association of three polymorphisms in the GC gene (rs7041 and rs4588) and CYP2R1 gene (rs10741657) on 25-(OH) VD serum concentration among Jordanians.
26149120 Polymorphisms in CYP2R1-rs10766197 and DHCR7/NADSYN1-rs12785878 are associated with vitamin D deficiency in Uygur and Kazak ethnic populations
25637936 physical and functional interaction between DHCR24 and DHCR7
25040602 This study shows that Smith-Lemli-Opitz Syndrome patients who are heterozygous/homozygous for one pathogenic mutation and only one parent carrying that mutation are candidates for DHCR7 gene (partial) deletions.
24974252 In this mendelian randomisation study, we generated an allele score (25[OH]D synthesis score) based on variants of genes that affect 25(OH)D synthesis or substrate availability (CYP2R1 and DHCR7)
24663808 rs3829251 (DHCR7) influenced progression of subclinical atherosclerosis in a manner dependent on type 2 diabetes status but independent of 25(OH)D levels. The SNP modulates DHCR7 mRNA levels in aortic adventitia.
24642724 NADSYN1/DHCR7 locus (rs12785878 and rs1790349) polymorphisms have an effect on plasma 25-hydroxyvitamin D levels and coronary artery disease incidence
24184224 This study provides evidence that the DHCR7 gene is involved in the susceptibility to ocular Behcet disease.
23734184 Data indicate that the same nucleotide polymorphisms (SNPs) genotypes of CYP2R1, GC and DHCR7 that are associated with reduced 25(OH)D3 serum levels were found to be associated with hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC).
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AA Sequence

MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTG      1 - 70
PVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVV     71 - 140
NKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCK    141 - 210
FTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIY    211 - 280
VIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYI    281 - 350
FRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL    351 - 420
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF                   421 - 475
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Text Mined References (93)

PMID Year Title
26887953 2016 Cholesterol-mediated Degradation of 7-Dehydrocholesterol Reductase Switches the Balance from Cholesterol to Vitamin D Synthesis.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26383826 2015 Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients.
26149120 2015 Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25787250 2015 Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.
25637936 2015 The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.
25040602 2015 Characterization of large deletions in the DHCR7 gene.
24974252 2014 Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
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