full name
steroid 5 alpha-reductase 3

synonyms
CDG1P, CDG1Q, KRIZI, SRD5A2L, SRD5A2L1, SRD5A3, ENSG00000128039

HGNC
HGNC:25812

Entrez Gene
Gene:79644

ENSEMBL
ENSG00000128039

location
chr: 4
start: 56212388
stop: 56239267
strand: +

OMIM
OMIM:611715: SRD5A3 (Autosomal recessive inheritance)
OMIM:612379: Congenital disorder of glycosylation, type Iq
OMIM:612713: Kahrizi syndrome

transcripts
NM_024592.4

pathways
Androgen biosynthesis [NCBI:1270050] [REACTOME:R-HSA-193048] [PUBMED:12428201]
Asparagine N-linked glycosylation [NCBI:1268714] [REACTOME:R-HSA-446203] [PUBMED:16807922] [PUBMED:19647993] [PUBMED:10580125] [PUBMED:19616933] [PUBMED:20301507] [PUBMED:20301244]
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein [NCBI:1268715] [REACTOME:R-HSA-446193] [PUBMED:20301507]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Metabolism of steroid hormones [NCBI:1270046] [REACTOME:R-HSA-196071] [PUBMED:15583024]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Steroid hormone biosynthesis [NCBI:82940] [KEGG:hsa00140] [PUBMED:15642792] [PUBMED:16413106] [PUBMED:12832414] [PUBMED:17475203] [PUBMED:12604236] [PUBMED:10998348] [PUBMED:11469811] [PUBMED:16547389] [PUBMED:17926129] [PUBMED:17459698]
Synthesis of Dolichyl-phosphate [NCBI:1268717] [REACTOME:R-HSA-446199] [PUBMED:21384228]
Synthesis of substrates in N-glycan biosythesis [NCBI:1268716] [REACTOME:R-HSA-446219] [PUBMED:18597486]
dolichol and dolichyl phosphate biosynthesis [NCBI:545306] [BIOCYC:HUMAN_PWY-6129]