Defective MAT1A does not transfer Ado from ATP to L-Met

Stable Identifier
R-HSA-5603087
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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S-adenosylmethionine (AdoMet, SAM) is an important methyl donor in most transmethylation reactions. S-adenosylmethionine synthase isoform type-1 (MAT1A) catalyses the formation of AdoMet from methionine and ATP. Defects in MAT1A can cause methionine adenosyltransferase deficiency (MATD; MIM:250850), an inborn error of metabolism resulting in hypermethioninemia. In this condition, methionine accumulates because its conversion to AdoMet is impaired. Frameshift mutations causing complete loss of MAT1A function are K181Vfs*5, H277Afs*75 and V348Gfs*3 (Hazelwood et al. 1998, Chamberlin et al. 1996).

Literature References
PubMed ID Title Journal Year
9482646 Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III

Hazelwood, S, Bernardini, I, Shotelersuk, V, Tangerman, A, Guo, J, Mudd, H, Gahl, WA

Am. J. Med. Genet. 1998
8770875 Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency

Chamberlin, ME, Ubagai, T, Mudd, SH, Wilson, WG, Leonard, JV, Chou, JY

J. Clin. Invest. 1996
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
methionine adenosyltransferase activity of MAT1A mutant multimers [cytosol]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
hypermethioninemia 0050544 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
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