6qh4

Crystal structure of human Methylmalonyl-CoA epimerase (MCEE) p.Arg143Cys variantCrystal structure of human Methylmalonyl-CoA epimerase (MCEE) p.Arg143Cys variant

Structural highlights

6qh4 is a 4 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:
Gene:	MCEE (HUMAN)
Activity:	Methylmalonyl-CoA epimerase, with EC number 5.1.99.1
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[MCEE_HUMAN] Vitamin B12-unresponsive methylmalonic acidemia. Methylmalonyl-CoA epimerase deficiency (MCEED) [MIM:251120]: Autosomal recessive inborn error of amino acid metabolism, involving valine, threonine, isoleucine and methionine. This organic aciduria may present in the neonatal period with life-threatening metabolic acidosis, hyperammonemia, feeding difficulties, pancytopenia and coma. Note=The disease is caused by mutations affecting the gene represented in this entry.^[1]

References

↑ Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat. 2006 Jul;27(7):640-3. PMID:16752391 doi:10.1002/humu.20373

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OCA

[1] Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. Hum Mutat. 2006 Jul;27(7):640-3. PMID:16752391 doi:10.1002/humu.20373

[1]

6qh4

Crystal structure of human Methylmalonyl-CoA epimerase (MCEE) p.Arg143Cys variantCrystal structure of human Methylmalonyl-CoA epimerase (MCEE) p.Arg143Cys variant

Structural highlights

Disease

References

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6qh4

Crystal structure of human Methylmalonyl-CoA epimerase (MCEE) p.Arg143Cys variantCrystal structure of human Methylmalonyl-CoA epimerase (MCEE) p.Arg143Cys variant

Structural highlights

Disease

References

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