Home Page |
Orphanet | References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 19/07/2006 |
Symbol | MAT1A |
Location | 10q23.1 |
Name | methionine adenosyltransferase deficiency |
Other name(s) | hypermethioninemia, isolated, persistent |
Corresponding gene | MAT1A |
Main clinical features | brain demyelination in homozygote |
Genetic determination | autosomal recessive |
Related entries | . including forms with a milder phenotype . including any cases of benign autosomal dominant form |
Function/system disorder | metabolism/aminoacids |
Type | disease |
Gene product |
Name | methionine adenosyltransferase, liver (MAT1A) |
Remark(s) |