Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:homocystinuria
methylcobalamin deficiency |
| gptkbp:chromosomeArm |
5p15.31
|
| gptkbp:encodes |
methionine synthase reductase protein
|
| gptkbp:Entrez_Gene_ID |
4552
ENSG00000147403 |
| gptkbp:fullName |
methionine synthase reductase
|
| gptkbp:function |
involved in folate metabolism
involved in homocysteine metabolism regenerates methionine synthase |
| gptkbp:HGNC_ID |
HGNC:7473
|
| https://www.w3.org/2000/01/rdf-schema#label |
MTRR
|
| gptkbp:length |
698 amino acids
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
|
| gptkbp:mutationAssociatedWith |
can cause homocystinuria-megaloblastic anemia
|
| gptkbp:OMIM |
602568
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:proteinFamily |
ferredoxin--NADP reductase type
|
| gptkbp:UniProtID |
Q9UBK8
|
| gptkbp:bfsParent |
gptkb:x86_family
|
| gptkbp:bfsLayer |
8
|