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Details of MAT1A gene in Homo sapiens
IDs |
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| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| MAT1A | AMS1,MATA1 | Q00266 | METK1_HUMAN | 4143
| ENSG00000151224
| S-adenosylmethionine synthase isoform type-1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Methionine adenosyltransferase deficiency (MATD) [MIM:250850]: An inborn error of metabolism resulting in isolated hypermethioninemia. Most patients have no clinical abnormalities, although some neurologic symptoms may be present in rare cases with severe loss of methionine adenosyltransferase activity. Note=The disease is caused by mutations affecting the gene represented in this entry. |
250850 |
Phenotypes
Abnormality of amino acid metabolism, Abnormality of aspartate family amino acid metabolism, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of methionine metabolism, Abnormality of movement, Abnormality of pyramidal motor function, Abnormality of sulfur amino acid metabolism, Abnormality of the central nervous system, Abnormality of the face, Abnormality of the head, Abnormality of the mouth, Abnormality of the nervous system, All, Autosomal dominant inheritance, Autosomal recessive inheritance, Cognitive impairment, Dystonia, Hypermethioninemia, Hyperreflexia, Intellectual disability, Mode of inheritance, Phenotypic abnormality.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
