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

Stable Identifier
R-HSA-5603087
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective MAT1A does not transfer Ado from ATP to L-Met
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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
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
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
Participants
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Catalyst Activity

methionine adenosyltransferase activity of MAT1A mutant multimers [cytosol]

Physical Entity
MAT1A mutant multimers [cytosol] (Homo sapiens)
Activity
methionine adenosyltransferase activity (GO:0004478)
Normal reaction
MAT1A multimers transfer Ado from ATP to L-Met (Homo sapiens)
Functional status

Loss of function of MAT1A mutant multimers [cytosol]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
hypermethioninemia DOID:0050544 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Cross References
Mondo
Authored
Jassal, B  (2014-06-27)
Reviewed
Nakaki, T  (2014-11-03)
Created
Jassal, B  (2014-06-27)
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