| Tbio | Alanine--glyoxylate aminotransferase 2, mitochondrial |
Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure.
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Metabolism, Inborn Errors | 17 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Inborn Errors of Metabolism | 16 |
| Schizophrenia | 1160 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6694 | 3.8e-06 |
| osteosarcoma | 7950 | 4.5e-05 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 6.5e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Primary hyperoxaluria | 15 | 3.06 | 1.5 |
| Disease | log2 FC | p |
|---|---|---|
| osteosarcoma | 1.167 | 4.5e-05 |
| pancreatic ductal adenocarcinoma liver m... | -1.746 | 6.5e-03 |
| psoriasis | -1.800 | 3.8e-06 |
MTLIWRHLLRPLCLVTSAPRILEMHPFLSLGTSRTSVTKLSLHTKPRMPPCDFMPERYQSLGYNRVLEIH 1 - 70 KEHLSPVVTAYFQKPLLLHQGHMEWLFDAEGSRYLDFFSGIVTVSVGHCHPKVNAVAQKQLGRLWHTSTV 71 - 140 FFHPPMHEYAEKLAALLPEPLKVIFLVNSGSEANELAMLMARAHSNNIDIISFRGAYHGCSPYTLGLTNV 141 - 210 GTYKMELPGGTGCQPTMCPDVFRGPWGGSHCRDSPVQTIRKCSCAPDCCQAKDQYIEQFKDTLSTSVAKS 211 - 280 IAGFFAEPIQGVNGVVQYPKGFLKEAFELVRARGGVCIADEVQTGFGRLGSHFWGFQTHDVLPDIVTMAK 281 - 350 GIGNGFPMAAVITTPEIAKSLAKCLQHFNTFGGNPMACAIGSAVLEVIKEENLQENSQEVGTYMLLKFAK 351 - 420 LRDEFEIVGDVRGKGLMIGIEMVQDKISCRPLPREEVNQIHEDCKHMGLLVGRGSIFSQTFRIAPSMCIT 421 - 490 KPEVDFAVEVFRSALTQHMERRAK 491 - 514 //
