HMGCS2
entrez
3158
canonical
uniprot
P54868
canonical
ensembl
ENSG00000134240
resolver
ensp
ENSP00000358414
resolver
ensp
ENSP00000439495
resolver
genesymbol
HMGCS2
resolver
hgnc
HGNC:5008
resolver
uniprot
A0A140VJL2
resolver
uniprot
B7Z8R3
resolver
uniprot
D3Y5K6
resolver
uniprot
Q5SZU2
resolver
uniprot
Q6IBF4
resolver
uniprot_entry
A0A140VJL2_HUMAN
resolver
uniprot_entry
HMCS2_HUMAN
resolver
uniprot_sec
B7Z8R3
resolver
uniprot_sec
D3Y5K6
resolver
uniprot_sec
Q5SZU2
resolver
uniprot_sec
Q6IBF4
resolver
amino_acid_sequence
MQRLLTPVKRILQLTRAVQETSLTPARLLPVAHQRFSTASAVPLAKTDTWPKDVGILALEVYFPAQYVDQTDLEKYNNVEAGKYTVGLGQTRMGFCSVQEDINSLCLTVVQRLMERIQLPWDSVGRLEVGTETIIDKSKAVKTVLMELFQDSGNTDIEGIDTTNACYGGTASLFNAANWMESSSWDGRYAMVVCGDIAVYPSGNARPTGGAGAVAMLIGPKAPLALERGLRGTHMENVYDFYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKKIQNQWKQAGSDRPFTLDDLQYMIFHTPFCKMVQKSLARLMFNDFLSASSDTQTSLYKGLEAFGGLKLEDTYTNKDLDKALLKASQDMFDKKTKASLYLSTHNGNMYTSSLYGCLASLLSHHSAQELAGSRIGAFSYGSGLAASFFSFRVSQDAAPGSPLDKLVSSTSDLPKRLASRKCVSPEEFTEIMNQREQFYHKVNFSPPGDTNSLFPGTWYLERVDEQHRRKYARRPV
uniprot
proteins
disease_involvement
DISEASE: 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]: A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly. {ECO:0000269|PubMed:11228257, ECO:0000269|PubMed:11479731, ECO:0000269|PubMed:12647205, ECO:0000269|PubMed:16601895, ECO:0000269|PubMed:23751782, ECO:0000269|PubMed:25511235, ECO:0000269|PubMed:29597274}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.3.10
uniprot
proteins
function
FUNCTION: Catalyzes the first irreversible step in ketogenesis, condensing acetyl-CoA to acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate. {ECO:0000269|PubMed:11228257, ECO:0000269|PubMed:23751782, ECO:0000269|PubMed:29597274}.
uniprot
proteins
mass_dalton
56635
uniprot
proteins
pathway_participation
PATHWAY: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3. {ECO:0000305}.
uniprot
proteins
post_translational_modification
PTM: Succinylated. Desuccinylated by SIRT5. Succinylation, at least at Lys-83 and Lys-310, inhibits the enzymatic activity. {ECO:0000250|UniProtKB:P54869}.
uniprot
proteins
protein_family
HMG-CoA synthase family
uniprot
proteins
protein_family
Thiolase-like superfamily
uniprot
proteins
pubmed
11228257
uniprot
proteins
pubmed
11479731
uniprot
proteins
pubmed
12647205
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16601895
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16940161
uniprot
proteins
pubmed
20346956
uniprot
proteins
pubmed
21952825
uniprot
proteins
pubmed
23751782
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25511235
uniprot
proteins
pubmed
29597274
uniprot
proteins
pubmed
7851882
uniprot
proteins
pubmed
7893153
uniprot
proteins
pubmed
9305755
uniprot
proteins
sequence_length
508
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:P22791}.
uniprot
proteins