Gene: MMACHC

Alternate names for this Gene: cblC

Gene Summary: The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: metabolism of cobalamin associated C

Type of Gene: protein-coding

rs121918243 in MMACHC gene and Dysmorphic features PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 16714133 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

rs1002571805 in MMACHC gene and Methylmalonic acidemia with homocystinuria PMID 26825575 2016 Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 26270766 2016 A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.

PMID 20631720 2010 Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

PMID 20924684 2010 Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

PMID 25809485 2015 Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.

PMID 22642810 2012 Structure of MMACHC reveals an arginine-rich pocket and a domain-swapped dimer for its B12 processing function.

PMID 20219402 2010 Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 19700356 2009 Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.

PMID 16714133 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

PMID 18164228 2008 Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

PMID 24126030 2014 Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.

PMID 28218226 2017 Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type.

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 23825108 2013 Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

PMID 17853453 2007 Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

PMID 25687216 2015 Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.

PMID 22560872 2012 A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China.

PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

PMID 18848477 2008 Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.

PMID 25772322 2015 Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.

PMID 23954310 2013 Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

PMID 25689098 2015 Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

PMID 18245139 2008 The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.

PMID 11261516 2001 Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.

PMID 28327205 2017 Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.

PMID 26149271 2015 Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.

PMID 27383490 2016 Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia.

PMID 21835369 2011 Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.

PMID 24210589 2014 Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.

PMID 19760748 2009 Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

PMID 23837176 2013 Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 24599607 2014 Clinical presentation and outcome in a series of 88 patients with the cblC defect.

PMID 19767224 2009 High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.

PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 29294253 2018 Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.

PMID 27252276 2017 Molecular picture of cobalamin C/D defects before and after newborn screening era.

PMID 22447314 2012 Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.

PMID 25894566 2015 Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.

PMID 20610126 2010 In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC type, which was complicated by sensorimotor peripheral demyelinating neuropathy.

PMID 19914430 2009 Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.

PMID 25388550 2015 Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?

PMID 27751223 2016 [Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].

rs121918243 in MMACHC gene and Movement Disorders PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 16714133 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

rs121918243 in MMACHC gene and Muscle hypotonia PMID 26658511 2015 Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

PMID 26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.

PMID 21748409 2012 Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 25398587 2014 Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.

PMID 16311595 2006 Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

PMID 16714133 2006 Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.