Gene: MMAB

Alternate names for this Gene: ATR|CFAP23|cblB|cob

Gene Summary: This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: metabolism of cobalamin associated B

Type of Gene: protein-coding

Gene: MVK

Alternate names for this Gene: LRBP|MK|MVLK|POROK3

Gene Summary: This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: mevalonate kinase

Type of Gene: protein-coding

rs104895295 in MMAB;MVK gene and Hyperimmunoglobulinemia D PMID 11313769 2001 Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

PMID 11313768 2001 Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 15536479 2005 MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

PMID 10369262 1999 Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

PMID 10369261 1999 Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

rs1481415459 in MMAB;MVK gene and Methylmalonic aciduria cblB type PMID 23707710 2014 High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria.

rs104895295 in MMAB;MVK gene and Mevalonic Aciduria PMID 11313768 2001 Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

PMID 11313769 2001 Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.

PMID 1377680 1992 Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

PMID 10401001 1999 Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.

PMID 10417275 1999 Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

rs104895322 in MMAB;MVK gene and POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 PMID 12563048 2003 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

PMID 16835861 2006 Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.