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MMACHC gene

Known as: MMACHC, cblC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Abstract 3319: Epigenetic upregulation of E3 ubiquitin ligase CBLC enhances EGFR dysregulation and signaling
CBLC (CBL proto-oncogene c) belongs to the CBL protein family which has E3 ubiquitin ligase activity towards activated receptor… 
2017
2017
Structural insights into the MMACHC-MMADHC protein complex involved in vitamin B 12 trafficking
Conversion of vitamin B12 (cobalamin, Cbl) into the cofactor forms methyl-Cbl (MeCbl) and adenosyl-Cbl (AdoCbl) is required for… 
2017
2017
Optical coherence tomography morphology and evolution in cblC disease‐related maculopathy in a case series of very young patients
To describe the retinal structure of a group of patients affected by methylmalonic aciduria with homocystinuria cblC type, caused… 
2015
2015
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type
2015
2015
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC
BackgroundCombined methylmalonic aciduria and homocystinuria, cobalamin(cbl)C deficiency, is a rare disorder of intracellular… 
2015
2015
Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?
A newborn male born to a non-consanguineous Mexican couple was evaluated for lethargy and elevated C3 acylcarnitine (18 μmol/L… 
2013
2013
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
2013
2013
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.
The cblG and cblC disorders of cobalamin (Cbl) metabolism are two inherited causes of megaloblastic anaemia. In cblG, mutations… 
2009
2009
Abnormal mammary gland development in MMTV-CBLC transgenic mouse.
The CBL family of E3 ubiquitin ligases regulates cell signaling in a number of tissues by promoting degradation of tyrosine… 
2009
2009
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
  • Fei WangL. Han X. Gu
  • Zhonghua er ke za zhi = Chinese journal of…
  • 2009
  • Corpus ID: 45765998
OBJECTIVE Methylmalonic acidemia complicated with homocysteinemia, cblC type, is the most common inborn error of cobalamin… 
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