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)