Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:mannose-6-phosphate_isomerase
CDG1A PMM 2 |
| gptkbp:associatedWith |
congenital disorder of glycosylation type Ia
|
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
phosphomannomutase 2 protein
|
| gptkbp:Entrez_Gene_ID |
ENSG00000140650
|
| gptkbp:expressedIn |
various tissues
|
| gptkbp:fullName |
phosphomannomutase 2
|
| gptkbp:function |
catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
9143
|
| https://www.w3.org/2000/01/rdf-schema#label |
PMM2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_16
16p13.2 |
| gptkbp:mutationAssociatedWith |
causes PMM2-CDG (CDG-Ia)
|
| gptkbp:OMIM |
601785
|
| gptkbp:orthologInMouse |
Pmm2
|
| gptkbp:RefSeq |
NM_000303
|
| gptkbp:UniProtID |
O15305
|
| gptkbp:bfsParent |
gptkb:chromosome_16p13.3
|
| gptkbp:bfsLayer |
7
|