full name
7-dehydrocholesterol reductase

synonyms
SLOS, DHCR7, ENSG00000172893

HGNC
HGNC:2860

Entrez Gene
Gene:1717

ENSEMBL
ENSG00000172893

location
chr: 11
start: 71145457
stop: 71159477
strand: -

OMIM
OMIM:602858: DHCR7 (Autosomal recessive inheritance)
OMIM:270400: Smith-Lemli-Opitz syndrome

transcripts
NM_001163817.1
NM_001360.2

pathways
Activation of gene expression by SREBF (SREBP) [NCBI:1270039] [REACTOME:R-HSA-2426168] [PUBMED:15589694] [PUBMED:9748295] [PUBMED:15457548]
Cholesterol biosynthesis [NCBI:1270037] [REACTOME:R-HSA-191273] [PUBMED:3524618] [PUBMED:12668600] [PUBMED:1390320] [PUBMED:11969204] [PUBMED:16054061]
Cholesterol biosynthesis via desmosterol [NCBI:1339144] [REACTOME:R-HSA-6807047] [PUBMED:26114596]
Cholesterol biosynthesis via lathosterol [NCBI:1339145] [REACTOME:R-HSA-6807062] [PUBMED:14404284] [PUBMED:26114596]
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol [NCBI:413390] [KEGG:hsa_M00101]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Regulation of cholesterol biosynthesis by SREBP (SREBF) [NCBI:1270038] [REACTOME:R-HSA-1655829] [PUBMED:15457548] [PUBMED:19933148] [PUBMED:18974038]
Steroid biosynthesis [NCBI:82937] [KEGG:hsa00100] [PUBMED:16531502] [PUBMED:12777052]
cholesterol biosynthesis I [NCBI:142267] [BIOCYC:HUMAN_PWY66-341] [PUBMED:9683613] [PUBMED:9894009] [PUBMED:240818] [PUBMED:12133002] [PUBMED:9630650] [PUBMED:2614264] [PUBMED:14766201] [PUBMED:10710235] [PUBMED:9465114] [PUBMED:9653161] [PUBMED:2007571] [PUBMED:12618959] [PUBMED:3037232] [PUBMED:10666321] [PUBMED:10391219] [PUBMED:12829805] [PUBMED:11519011] [PUBMED:9634533]
cholesterol biosynthesis II (via 24,25-dihydrolanosterol) [NCBI:142266] [BIOCYC:HUMAN_PWY66-3] [PUBMED:9653161] [PUBMED:9634533] [PUBMED:10666321] [PUBMED:14766201] [PUBMED:9465114] [PUBMED:9683613]
cholesterol biosynthesis III (via desmosterol) [NCBI:142268] [BIOCYC:HUMAN_PWY66-4] [PUBMED:12618959] [PUBMED:2007571] [PUBMED:9630650] [PUBMED:12829805] [PUBMED:10391219] [PUBMED:240818] [PUBMED:12133002] [PUBMED:9894009] [PUBMED:10666321] [PUBMED:2614264] [PUBMED:10710235] [PUBMED:14766201]
superpathway of cholesterol biosynthesis [NCBI:142269] [BIOCYC:HUMAN_PWY66-5] [PUBMED:240818] [PUBMED:11519011] [PUBMED:9634533] [PUBMED:10666321] [PUBMED:14766201] [PUBMED:9465114] [PUBMED:10710235] [PUBMED:9683613] [PUBMED:12133002] [PUBMED:9894009] [PUBMED:12618959] [PUBMED:3037232] [PUBMED:2614264] [PUBMED:9630650] [PUBMED:10391219] [PUBMED:12829805] [PUBMED:2007571] [PUBMED:9653161]