OGDHL
entrez
55753
canonical
uniprot
Q9ULD0
canonical
ensembl
ENSG00000197444
resolver
ensp
ENSP00000363216
resolver
ensp
ENSP00000390240
resolver
ensp
ENSP00000401356
resolver
ensp
ENSP00000522772
resolver
ensp
ENSP00000522773
resolver
ensp
ENSP00000522774
resolver
ensp
ENSP00000522779
resolver
genesymbol
OGDHL
resolver
genesymbol_syn
KIAA1290
resolver
hgnc
HGNC:25590
resolver
uniprot
A8K2G1
resolver
uniprot
B4DKG2
resolver
uniprot
B4E193
resolver
uniprot
Q8TAN9
resolver
uniprot
Q9NVA0
resolver
uniprot_entry
OGDHL_HUMAN
resolver
uniprot_sec
A8K2G1
resolver
uniprot_sec
B4DKG2
resolver
uniprot_sec
B4E193
resolver
uniprot_sec
Q8TAN9
resolver
uniprot_sec
Q9NVA0
resolver
amino_acid_sequence
MSQLRLLPSRLGVQAARLLAAHDVPVFGWRSRSSGPPATFPSSKGGGGSSYMEEMYFAWLENPQSVHKSWDSFFREASEEAFSGSAQPRPPSVVHESRSAVSSRTKTSKLVEDHLAVQSLIRAYQIRGHHVAQLDPLGILDADLDSFVPSDLITTIDKLAFYDLQEADLDKEFQLPTTTFIGGSENTLSLREIIRRLENTYCQHIGLEFMFINDVEQCQWIRQKFETPGVMQFSSEEKRTLLARLVRSMRFEDFLARKWSSEKRFGLEGCEVMIPALKTIIDKSSEMGIENVILGMPHRGRLNVLANVIRKDLEQIFCQFDPKLEAADEGSGDVKYHLGMYHERINRVTNRNITLSLVANPSHLEAVDPVVQGKTKAEQFYRGDAQGKKVMSILVHGDAAFAGQGVVYETFHLSDLPSYTTNGTVHVVVNNQIGFTTDPRMARSSPYPTDVARVVNAPIFHVNADDPEAVIYVCSVAAEWRNTFNKDVVVDLVCYRRRGHNEMDEPMFTQPLMYKQIHRQVPVLKKYADKLIAEGTVTLQEFEEEIAKYDRICEEAYGRSKDKKILHIKHWLDSPWPGFFNVDGEPKSMTCPATGIPEDMLTHIGSVASSVPLEDFKIHTGLSRILRGRADMTKNRTVDWALAEYMAFGSLLKEGIHVRLSGQDVERGTFSHRHHVLHDQEVDRRTCVPMNHLWPDQAPYTVCNSSLSEYGVLGFELGYAMASPNALVLWEAQFGDFHNTAQCIIDQFISTGQAKWVRHNGIVLLLPHGMEGMGPEHSSARPERFLQMSNDDSDAYPAFTKDFEVSQLYDCNWIVVNCSTPANYFHVLRRQILLPFRKPLIIFTPKSLLRHPEAKSSFDQMVSGTSFQRVIPEDGAAARAPEQVQRLIFCTGKVYYDLVKERSSQDLEEKVAITRLEQISPFPFDLIKQEAEKYPGAELAWCQEEHKNMGYYDYISPRFMTILRRARPIWYVGRDPAAAPATGNRNTHLVSLKKFLDTAFNLQAFEGKTF
uniprot
proteins
disease_involvement
DISEASE: Yoon-Bellen neurodevelopmental syndrome (YOBELN) [MIM:619701]: An autosomal recessive disorder characterized by global developmental delay, and variably impaired intellectual development. Additional variable features may include hypotonia, spasticity, ataxia, hearing loss, visual problems, seizures, and non-specific anomalies on brain imaging. {ECO:0000269|PubMed:28017472, ECO:0000269|PubMed:34800363}. Note=The disease may be caused by variants affecting the gene represented in this entry. The causal relationship between OGDHL variants and Yoon-Bellen neurodevelopmetal syndrome as monogenic disease has been called into question and needs to be confirmed (PubMed:38031187). Clinical disease presentation is highly heterogeneous with no cardinal phenotypic features occurring in all or most patients. Additionally, several of the reported variants appear with high minor allele frequency, are even present in a homozygous state in population databases, and familial segregation analysis is limited. {ECO:0000305|PubMed:38031187}.
uniprot
proteins
ec_number
1.2.4.2
uniprot
proteins
function
FUNCTION: 2-oxoglutarate dehydrogenase (E1-like) component of the 2-oxoglutarate dehydrogenase multienzyme complex (OGDHC) which mediates the decarboxylation of alpha-ketoglutarate in the tricarboxylic acid cycle. The OGDHC complex catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) while reducing NAD(+) to NADH (By similarity). The OGDHC complex is mainly active in the mitochondrion (By similarity). Involved in the inhibition of cell proliferation and in apoptosis (PubMed:23152800, PubMed:31175094). {ECO:0000250|UniProtKB:D3ZQD3, ECO:0000269|PubMed:23152800, ECO:0000269|PubMed:31175094}.
uniprot
proteins
mass_dalton
114481
uniprot
proteins
protein_family
Alpha-ketoglutarate dehydrogenase family
uniprot
proteins
pubmed
10574462
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23152800
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28017472
uniprot
proteins
pubmed
31175094
uniprot
proteins
pubmed
34800363
uniprot
proteins
pubmed
38031187
uniprot
proteins
sequence_length
1010
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:23152800}.
uniprot
proteins