KEGG   VARIANT: 3155v1
Entry
3155v1                      Variant                                
Name
HMGCL deficiency
Gene
HMGCL  3-hydroxy-3-methylglutaryl-CoA lyase [KO:K01640]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613898
Network
nt06024  Valine, leucine and isoleucine degradation
Disease
H00179  3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Reference
PMID:8440722
  Authors
Mitchell GA, Robert MF, Hruz PW, Wang S, Fontaine G, Behnke CE, Mende-Mueller LM, Schappert K, Lee C, Gibson KM, Miziorko HM, et al.
  Title
3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.
  Journal
J Biol Chem 268:4376-81 (1993)
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