Gene: CCDC163

Alternate names for this Gene: C1orf231|CCDC163P

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: coiled-coil domain containing 163

Type of Gene: protein-coding

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

rs546099787 in CCDC163;MMACHC gene and Methylmalonic acidemia with homocystinuria PMID 19700356 2009 Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria.

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

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

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

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

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

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

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

PMID 26412180 2015 [Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia].

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

PMID 29042959 2017 Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report.

PMID 17768669 2007 Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).

PMID 28693988 2017 Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

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

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

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