GENE REFERENCE / HGNC:6903

MAT1A

methionine adenosyltransferase 1A

protein-coding gene10q22.3Gene information

What does this gene do?

The MAT1A gene provides instructions for producing the enzyme methionine adenosyltransferase. The enzyme is produced from the MAT1A gene in two forms, designated MATI and MATII. MATI is made up of four identical protein subunits, which is known as a homotetramer. MATII is made up of two of the same protein subunits, which is known as a homodimer. Both forms of the enzyme are found in the liver.

Both the MATI and MATII forms of methionine adenosyltransferase help break down a protein building block (amino acid) called methionine. The enzyme starts the reaction that converts methionine to S-adenosylmethionine, also called AdoMet or SAMe. AdoMet is involved in transferring methyl groups, consisting of a carbon atom and three hydrogen atoms, to other compounds, a process called transmethylation. Transmethylation is important in many cellular processes. These processes include determining whether the instructions in a particular segment of DNA are carried out, regulating reactions involving proteins and lipids, and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters).

Source: MedlinePlus, National Library of Medicine. Source publication: 2021-08-06. Source review: 2007-04.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
methionine adenosyltransferase deficiencyMONDO:0009607 · Evaluated 2019-09-13	Autosomal recessive	DefinitiveAminoacidopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 472
Submissions for variants in or overlapping this gene: 693
Submissions explicitly reporting this gene: 643
Alleles reported pathogenic / likely pathogenic: 42
VariationIDs with uncertain significance: 226
VariationIDs with conflicting classifications: 25

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about MAT1A?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 42 alleles in MAT1A reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in MAT1A.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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