L2HGDH
entrez
79944
canonical
uniprot
Q9H9P8
canonical
ensembl
ENSG00000087299
resolver
ensp
ENSP00000267436
resolver
ensp
ENSP00000405559
resolver
genesymbol
L2HGDH
resolver
genesymbol_syn
C14orf160
resolver
hgnc
HGNC:20499
resolver
uniprot
Q9BRR1
resolver
uniprot_entry
L2HDH_HUMAN
resolver
uniprot_sec
Q9BRR1
resolver
amino_acid_sequence
MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL
uniprot
proteins
disease_involvement
DISEASE: L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]: A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe intellectual disability. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. {ECO:0000269|PubMed:15385440, ECO:0000269|PubMed:15548604, ECO:0000269|PubMed:16005139, ECO:0000269|PubMed:16134148}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.99.2
uniprot
proteins
function
FUNCTION: Catalyzes the oxidation of L-2-hydroxyglutarate to 2-oxoglutarate (alpha-ketoglutarate). {ECO:0000269|PubMed:16005139}.
uniprot
proteins
mass_dalton
50316
uniprot
proteins
protein_family
L2HGDH family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15385440
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15548604
uniprot
proteins
pubmed
16005139
uniprot
proteins
pubmed
16134148
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
463
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16005139}.
uniprot
proteins