KEGG   Homo sapiens (human): 3158Help
Entry
3158              CDS       T01001                                 

Gene name
HMGCS2
Definition
3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (EC:2.3.3.10)
Orthology
K01641  
hydroxymethylglutaryl-CoA synthase [EC:2.3.3.10]
Organism
hsa  Homo sapiens (human)
Pathway
Synthesis and degradation of ketone bodies
Valine, leucine and isoleucine degradation
Butanoate metabolism
Terpenoid backbone biosynthesis
Metabolic pathways
PPAR signaling pathway
Module
C5 isoprenoid biosynthesis, mevalonate pathway
Disease
H01123  
HMG-CoA synthase (HMGCS) deficiency
Class
Metabolism; Carbohydrate metabolism; Butanoate metabolism [PATH:hsa00650]
Metabolism; Lipid metabolism; Synthesis and degradation of ketone bodies [PATH:hsa00072]
Metabolism; Amino acid metabolism; Valine, leucine and isoleucine degradation [PATH:hsa00280]
Metabolism; Metabolism of terpenoids and polyketides; Terpenoid backbone biosynthesis [PATH:hsa00900]
Organismal Systems; Endocrine system; PPAR signaling pathway [PATH:hsa03320]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
1p13-p12
AA seq 466 aa AA seqDB search
MQRLLTPVKRILQLTRAVQETSLTPARLLPVAHQRFSTASAVPLAKTDTWPKDVGILALE
VYFPAQYVDQTDLEKYNNVEAGKYTVGLGQTRMGFCSVQEDINSLCLTVVQRLMERIQLP
WDSVGRLEVGTETIIDKSKAVKTVLMELFQDSGNTDIEGIDTTNACYGGTASLFNAANWM
ESSSWDGLRGTHMENVYDFYKPNLASEYPIVDGKLSIQCYLRALDRCYTSYRKKIQNQWK
QAGSDRPFTLDDLQYMIFHTPFCKMVQKSLARLMFNDFLSASSDTQTSLYKGLEAFGGLK
LEDTYTNKDLDKALLKASQDMFDKKTKASLYLSTHNGNMYTSSLYGCLASLLSHHSAQEL
AGSRIGAFSYGSGLAASFFSFRVSQDAAPGSPLDKLVSSTSDLPKRLASRKCVSPEEFTE
IMNQREQFYHKVNFSPPGDTNSLFPGTWYLERVDEQHRRKYARRPV
NT seq 1401 nt NT seq  +upstreamnt  +downstreamnt
atgcagcgtctgttgactccagtgaagcgcattctgcaactgacaagagcggtgcaggaa
acctccctcacacctgctcgcctgctcccagtagcccaccaaaggttttctacagcctct
gctgtccccctggccaaaacagatacttggccaaaggacgtgggcatcctggccctggag
gtctacttcccagcccaatatgtggaccaaactgacctggagaagtataacaatgtggaa
gcaggaaagtatacagtgggcttgggccagacccgtatgggcttctgctcagtccaagag
gacatcaactccctgtgcctgacggtggtgcaacggctgatggagcgcatacagctccca
tgggactctgtgggcaggctggaagtaggcactgagaccatcattgacaagtccaaagct
gtcaaaacagtgctcatggaactcttccaggattcaggcaatactgatattgagggcata
gataccaccaatgcctgctacggtggtactgcctccctcttcaatgctgccaactggatg
gagtccagttcctgggatgggctgaggggaacccatatggagaatgtgtatgacttctac
aaaccaaatttggcctcggagtacccaatagtggatgggaagctttccatccagtgctac
ttgcgggccttggatcgatgttacacatcataccgtaaaaaaatccagaatcagtggaag
caagctggcagcgatcgacccttcacccttgacgatttacagtacatgatctttcataca
cccttttgcaagatggtccagaagtctctggctcgcctgatgttcaatgacttcctgtca
gccagcagtgacacacaaaccagcttatataaggggctggaggctttcggggggctaaag
ctggaagacacctacaccaacaaggacctggataaagcacttctaaaggcctctcaggac
atgttcgacaagaaaaccaaggcttccctttacctctccactcacaatgggaacatgtac
acctcatccctgtacgggtgcctggcctcgcttctgtcccaccactctgcccaagaactg
gctggctccaggattggtgccttctcttatggctctggtttagcagcaagtttcttttca
tttcgagtatcccaggatgctgctccaggctctcccctggacaagttggtgtccagcaca
tcagacctgccaaaacgcctagcctcccgaaagtgtgtgtctcctgaggagttcacagaa
ataatgaaccaaagagagcaattctaccataaggtgaatttctccccacctggtgacaca
aacagccttttcccaggtacttggtacctggagcgagtggacgagcagcatcgccgaaag
tatgcccggcgtcccgtctaa

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