3rmu

Crystal structure of human Methylmalonyl-CoA epimerase, MCEECrystal structure of human Methylmalonyl-CoA epimerase, MCEE

Structural highlights

3rmu is a 4 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	X-ray diffraction, Resolution 1.8Å
Ligands:	, ,
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]

Function

MCEE_HUMAN

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

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