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Results for the Protein: P54868
1708234

HMCS2_HUMAN RecName: Full=Hydroxymethylglutaryl-CoA synthase, mitochondrial; Short=HMG-CoA synthase; AltName: Full=3-hydroxy-3-methylglutaryl coenzyme A synthase; Flags: Precursor

Known Diseases associated with this Protein:
  HMG-COA SYNTHASE DEFICIENCY (HMGCS DEFICIENCY)
  MITOCHONDRIAL HMG-COA SYNTHASE DEFICIENCY
11
0
6
0
5
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Default View:

PksG - COG3425
init_cond_enzymes - cd00827
HMG_CoA_synt_N - pfam01154
ACP_syn_III - pfam08545
HMG_CoA_synt_C - pfam08540


Swiss-Prot Protein: P54868
Identical to: NP_005509
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
init_cond_enzymescd008277.4e-11753423
PksGCOG34256.4e-11952505
HMG_CoA_synt_Npfam011544.2e-12553223
ACP_syn_IIIpfam085450.001160241
HMG_CoA_synt_Cpfam085402.3e-203224506

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032760Diseasep.ARG500HISHMG-CoA synthase deficiency (HMGCS deficiency)
Swiss-ProtVAR_032759Diseasep.GLY212ARGHMG-CoA synthase deficiency (HMGCS deficiency)
Swiss-ProtVAR_032711Diseasep.PHE174LEUHMG-CoA synthase deficiency (HMGCS deficiency)
Swiss-ProtVAR_032758Diseasep.TYR167CYSHMG-CoA synthase deficiency (HMGCS deficiency)
Swiss-ProtVAR_032757Diseasep.VAL54METHMG-CoA synthase deficiency (HMGCS deficiency)
OMIM600234.0004 Diseasep.ARG500HISMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
OMIM600234.0002 Diseasep.ARG424TERMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
OMIM600234.0003 Diseasep.GLY212ARGMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
OMIM600234.0001 Diseasep.PHE174LEUMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
OMIM600234.0006 Diseasep.TYR167CYSMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
OMIM600234.0005 Diseasep.VAL54METMITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY



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