KEGG   VARIANT: 56922v1
Entry
56922v1                      Variant                               
Name
MCCC1 deficiency
Gene
MCCC1  methylcrotonyl-CoA carboxylase subunit 1 [KO:K01968]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609010
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H00181  3-Methylcrotonylglycinuria
Reference
PMID:11181649
  Authors
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D
  Title
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.
  Journal
J Clin Invest 107:495-504 (2001)
DOI:10.1172/JCI11948
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