Gene: MMAA
Alternate names for this Gene: cblA
Gene Summary: The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria.
Gene is located in Chromosome: 4
Location in Chromosome : 4q31.21
Description of this Gene: metabolism of cobalamin associated A
Type of Gene: protein-coding
rs104893851 in
MMAA gene and
Methylmalonic acidemia
PMID 26370686 2015 Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.
PMID 27591164 2017 Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
PMID 24095221 2013 Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.
PMID 15308131 2004 Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.
PMID 15523652 2004 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 25748407 2015 [Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA].
PMID 23026888 2012 High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
rs1029096863 in
MMAA gene and
Methylmalonic aciduria cblA type
PMID 21545677 2012 Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant.
PMID 16247646 2006 Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.
PMID 15523652 2004 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
PMID 28497574 2017 Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
PMID 23026888 2012 High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
PMID 12438653 2002 Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.
PMID 17957493 2008 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
PMID 15308131 2004 Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.
PMID 20876572 2010 Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
PMID 26270765 2016 A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.
PMID 15781192 2005 Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
PMID 27591164 2017 Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.