D2HGDH
entrez
728294
canonical
uniprot
Q8N465
canonical
ensembl
ENSG00000180902
resolver
ensp
ENSP00000315351
resolver
ensp
ENSP00000384723
resolver
ensp
ENSP00000580571
resolver
ensp
ENSP00000677701
resolver
ensp
ENSP00000715707
resolver
ensp
ENSP00000715708
resolver
ensp
ENSP00000715710
resolver
ensp
ENSP00000715715
resolver
ensp
ENSP00000788289
resolver
ensp
ENSP00000797352
resolver
enst
ENST00000403782
resolver
genesymbol
D2HGDH
resolver
genesymbol_syn
D2HGD
resolver
hgnc
HGNC:28358
resolver
uniprot
B3KSR6
resolver
uniprot
B4E3K7
resolver
uniprot
B4E3L6
resolver
uniprot
B5MCV2
resolver
uniprot
E7ENP2
resolver
uniprot
Q6IQ24
resolver
uniprot
Q8N5Q8
resolver
uniprot_entry
B3KSR6_HUMAN
resolver
uniprot_entry
B4E3K7_HUMAN
resolver
uniprot_entry
B5MCV2_HUMAN
resolver
uniprot_entry
D2HDH_HUMAN
resolver
uniprot_sec
B4E3L6
resolver
uniprot_sec
E7ENP2
resolver
uniprot_sec
Q6IQ24
resolver
uniprot_sec
Q8N5Q8
resolver
activity_regulation
ACTIVITY REGULATION: Activated by zinc and cobalt ions. {ECO:0000269|PubMed:15070399}.
uniprot
proteins
amino_acid_sequence
MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAFERIVPGGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSVPVFDEIILSTARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGGLRFLRYGSLHGTVLGLEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVNVAFLGCPGFAEVLQTFSTCKGMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHDAEKLGHFLEHALGSGLVTDGTMATDQRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRARLGPHAKHVVGYGHLGDGNLHLNVTAEAFSPSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSKPPGALQLMQQLKALLDPKGILNPYKTLPSQA
uniprot
proteins
disease_involvement
DISEASE: D-2-hydroxyglutaric aciduria 1 (D2HGA1) [MIM:600721]: A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. {ECO:0000269|PubMed:15609246, ECO:0000269|PubMed:16037974, ECO:0000269|PubMed:16081310, ECO:0000269|PubMed:19169842, ECO:0000269|PubMed:20020533, ECO:0000269|PubMed:33431826}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.99.39
uniprot
proteins
function
FUNCTION: Catalyzes the oxidation of D-2-hydroxyglutarate (D-2-HG) to alpha-ketoglutarate (PubMed:15070399, PubMed:15609246, PubMed:16037974, PubMed:20020533, PubMed:33431826). Also catalyzes the oxidation of other D-2-hydroxyacids, such as D-malate (D-MAL) and D-lactate (D-LAC) (PubMed:33431826). Exhibits high activities towards D-2-HG and D-MAL but a very weak activity towards D-LAC (PubMed:33431826). {ECO:0000269|PubMed:15070399, ECO:0000269|PubMed:15609246, ECO:0000269|PubMed:16037974, ECO:0000269|PubMed:20020533, ECO:0000269|PubMed:33431826}.
uniprot
proteins
mass_dalton
56416
uniprot
proteins
mutagenesis
MUTAGEN 386; /note="R->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:33431826"; MUTAGEN 390; /note="T->A: Significantly reduced catalytic activity."; /evidence="ECO:0000269|PubMed:33431826"; MUTAGEN 401; /note="K->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:33431826"; MUTAGEN 434; /note="H->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:33431826"; MUTAGEN 441; /note="H->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:33431826"; MUTAGEN 443; /note="N->A: Significantly reduced catalytic activity."; /evidence="ECO:0000269|PubMed:33431826"; MUTAGEN 475; /note="E->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:33431826"; MUTAGEN 476; /note="H->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:33431826
uniprot
proteins
protein_family
FAD-binding oxidoreductase/transferase type 4 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15070399
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15609246
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16037974
uniprot
proteins
pubmed
16081310
uniprot
proteins
pubmed
16442322
uniprot
proteins
pubmed
19169842
uniprot
proteins
pubmed
20020533
uniprot
proteins
pubmed
33431826
uniprot
proteins
sequence_length
521
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:15070399}.
uniprot
proteins