Property Summary

NCBI Gene PubMed Count 39
Grant Count 1
Funding $92,012.33
PubMed Score 67.00
PubTator Score 58.18

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
pancreatic ductal adenocarcinoma liver m... -1.079 0.002
lung cancer 1.300 0.006
ovarian cancer 1.100 0.000

Synonym

Accession Q9Y4U1 Q5T157 Q9BRQ7
Symbols cblC

Gene

 Grant Application (1)

PDB

3SBY   3SBZ   3SC0   3SOM  

Gene RIF (33)

PMID Text
26483544 the MMACHC-MMADHC complex is a 1:1 heterodimer, where the interaction region overlaps with the MMACHC-Cbl binding site
26283149 These results indicated that hypergonadotropic hypogonadism may be a novel clinical manifestation of cblC disease, but more reports on additional patients are needed to support this hypothesis.
26253414 MMACHC mutation was found in children diagnosed with hemolytic uremic syndrome secondary to cobalamin C disorder.
26149271 A novel mutation p.G155R of the MMACHC gene is identified in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
25982642 Five different known mutations in either MUT or MMACHC genes were identified in seven of the eight Chinese patients with methyl malonic acidemia.
25687216 an adult patient with bull's eye macular lesions and no clinically relevant systemic symptoms was diagnosed with cblC by genetic screening and follow-up biochemical laboratory tests.
25535791 Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC.
25281006 HCFC1 plays a role in craniofacial development, which is in part mediated through the regulation of MMACHC expression
24853097 mutation analysis of the MMACHC gene in four patients revealed novel heterozygous mutations at nucleotide 276 (c.276G > A [p.Glu926Glu] and c.276G > T [p.Glu92Asp]), which is located at the end of exon 2.
24577983 The gene responsible for cblC, named MMACHC, catalyzes the reductive decyanation of cyanocobalamin.
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AA Sequence

MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSC      1 - 70
HLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPW     71 - 140
GNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVT    141 - 210
PQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASP    211 - 280
GP                                                                        281 - 282
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Text Mined References (48)

PMID Year Title
26483544 2015 Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
26283149 2015 MMACHC gene mutation in familial hypogonadism with neurological symptoms.
26253414 2015 Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.
26149271 2015 Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
25982642 2015 Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
25809485 2015 Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.
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.
25535791 Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.
25281006 2014 Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression.
24853097 2014 Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene.
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