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methionine synthase reductase, mitochondrial (MSR, MTRR)
Function:
- role in reductive regeneration of cob(I)alamin cofactor required for the maintenance of methionine synthase in a functional state
2 [methionine synthase]-methylcob(I)alamin +
2 S-adenosylhomocysteine + NADP+
2 [methionine synthase]-cob(II)alamin + NADPH +
2 S-adenosyl-L-methionine
Cofactor: FAD, FMN
Structure:
- contains 1 flavodoxin-like domain
Compartment:
- isoforms B & C: cytoplasm
- isoform A: mitochondrion
Alternative splicing: named isoforms=3
Expression:
- found in all tissues tested
- particularly abundant in skeletal muscle
Pathology:
- defects in MTRR are the cause of methylcobalamin deficiency type E
Polymorphism:
- variant Met-49 has been associated with an increased risk for spina bifida & may be associated with chromosomal non- disjunction & Down syndrome
General
flavoprotein
mitochondrial protein
oxidoreductase
Properties
SIZE: MW = 80 kD
entity length = 725 aa
COMPARTMENT: mitochondria
cytoplasm
MOTIF: Flavodoxin-like {32-174}
cofactor-binding site [339-350]
COFACTOR-BOUND: flavin adenine dinucleotide
cofactor-binding site [474-485]
COFACTOR-BOUND: flavin adenine dinucleotide
cofactor-binding site [569-587]
COFACTOR-BOUND: NAD
cofactor-binding site [672-688]
COFACTOR-BOUND: NAD
Database Correlations
OMIM correlations
MORBIDMAP 602568
UniProt Q9UBK8
PFAM correlations
ENZYME 1.16.1.8
References
- UniProt :accession Q9UBK8
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MTRR