| Entrez Gene ID | 4552 |
|---|---|
| Official Gene Symbol | MTRR (GeneCards) |
| Full name | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
| Location | 5p15.31 |
| Other ids | Vega : OTTHUMG00000090477 MIM : 602568 HGNC : HGNC:7473 Ensembl : ENSG00000124275 |
| Other names | MSR, cblE |
| Summary | This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015] |
Found 9 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7594 | 4552 | MTRR | 5 | 8097546 | 8097546 | Asymptomatic | HiSeq 2000 |
| 7964 | 4552 | MTRR | 5 | 8064511 | 8064511 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 8399 | 4552 | MTRR | 5 | 8015570 | 8015570 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 8400 | 4552 | MTRR | 5 | 8287761 | 8287761 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 8609 | 4552 | MTRR | 5 | 8038633 | 8038633 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 8694 | 4552 | MTRR | 5 | 8264838 | 8264838 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 8792 | 4552 | MTRR | 5 | 8020213 | 8020213 | Xeroderma Pigmentosum | HiSeq 2000 HiSeq X Ten |
| 22973 | 4552 | MTRR | 5 | 8080480 | 8080480 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |
| 25990 | 4552 | MTRR | 5 | 8128102 | 8128102 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |