MCCC2
entrez
64087
canonical
uniprot
Q9HCC0
canonical
ensembl
ENSG00000131844
resolver
ensp
ENSP00000343657
resolver
ensp
ENSP00000420994
resolver
ensp
ENSP00000506735
resolver
ensp
ENSP00000507012
resolver
ensp
ENSP00000685458
resolver
enst
ENST00000683882
resolver
genesymbol
MCCC2
resolver
genesymbol_syn
MCCB
resolver
hgnc
HGNC:6937
resolver
uniprot
A0A140VK29
resolver
uniprot
A0A804HHS4
resolver
uniprot
A6NIY9
resolver
uniprot
Q96C27
resolver
uniprot
Q9Y4L7
resolver
uniprot_entry
A0A140VK29_HUMAN
resolver
uniprot_entry
A0A804HHS4_HUMAN
resolver
uniprot_entry
MCCB_HUMAN
resolver
uniprot_sec
A6NIY9
resolver
uniprot_sec
Q96C27
resolver
uniprot_sec
Q9Y4L7
resolver
amino_acid_sequence
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGKLLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIAMQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIFLAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM
uniprot
proteins
disease_involvement
DISEASE: 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. {ECO:0000269|PubMed:11170888, ECO:0000269|PubMed:11181649, ECO:0000269|PubMed:11406611, ECO:0000269|PubMed:14680978, ECO:0000269|PubMed:16010683, ECO:0000269|PubMed:17968484, ECO:0000269|PubMed:21071250, ECO:0000269|PubMed:22150417, ECO:0000269|PubMed:22264772, ECO:0000269|PubMed:22642865, ECO:0000269|PubMed:25382614, ECO:0000269|PubMed:27601257}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.4.1.4
uniprot
proteins
function
FUNCTION: Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269|PubMed:17360195}.
uniprot
proteins
mass_dalton
61333
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3. {ECO:0000269|PubMed:17360195}.
uniprot
proteins
protein_family
AccD/PCCB family
uniprot
proteins
pubmed
11170888
uniprot
proteins
pubmed
11181649
uniprot
proteins
pubmed
11406611
uniprot
proteins
pubmed
14680978
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16010683
uniprot
proteins
pubmed
16023992
uniprot
proteins
pubmed
17360195
uniprot
proteins
pubmed
17968484
uniprot
proteins
pubmed
21071250
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22150417
uniprot
proteins
pubmed
22264772
uniprot
proteins
pubmed
22642865
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25382614
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27601257
uniprot
proteins
sequence_length
563
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:11170888, ECO:0000269|PubMed:16023992}.
uniprot
proteins