Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
polyprenol reductase
steroid 5-alpha-reductase 3 |
| gptkbp:associatedWith |
congenital disorder of glycosylation type Iq
|
| gptkbp:encodes |
steroid 5 alpha-reductase 3
|
| gptkbp:Entrez_Gene_ID |
79607
|
| gptkbp:expressedIn |
various human tissues
|
| gptkbp:function |
catalyzes reduction of polyprenol to dolichol
involved in N-linked glycosylation |
| gptkbp:HGNC_ID |
HGNC:28913
|
| https://www.w3.org/2000/01/rdf-schema#label |
SRD5A3
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_4
4q12 |
| gptkbp:mutationAssociatedWith |
SRD5A3-CDG
|
| gptkbp:OMIM |
611715
|
| gptkbp:UniProtID |
Q9H8P0
|
| gptkbp:bfsParent |
gptkb:5α-reductase
|
| gptkbp:bfsLayer |
8
|