LMPD Database

LMP003171

Record overview

LMPD IDLMP003171
Gene ID64087
SpeciesHomo sapiens (Human)
Gene Namemethylcrotonoyl-CoA carboxylase 2 (beta)
Gene SymbolMCCC2
SynonymsMCCB
Alternate namesmethylcrotonoyl-CoA carboxylase beta chain, mitochondrial; biotin carboxylase; MCCase subunit beta; 3-methylcrotonyl-CoA carboxylase 2; methylcrotonoyl-Coenzyme A carboxylase 2 (beta); 3-methylcrotonyl-CoA:carbon dioxide ligase subunit beta; 3-methylcrotonyl-CoA carboxylase non-biotin-containing subunit; non-biotin containing subunit of 3-methylcrotonyl-CoA carboxylase
Chromosome5
Map Location5q12-q13
EC Number6.4.1.4
SummaryThis gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for MCCC2

Proteins

methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Refseq ID:NP_071415
Protein GI:11545863
UniProt ID:Q9HCC0
mRNA ID:NM_022132
Length:563
RefSeq Status:REVIEWED
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGKLLPRERIDNLIDPGSPFLEL
SQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIAMQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAI
MSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIFLAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKL
DVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLF
LQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSA
DEAALKEPIIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM