LDHD
entrez
197257
canonical
uniprot
Q86WU2
canonical
ensembl
ENSG00000166816
resolver
ensp
ENSP00000300051
resolver
ensp
ENSP00000417011
resolver
genesymbol
LDHD
resolver
hgnc
HGNC:19708
resolver
uniprot
Q8IZK5
resolver
uniprot_entry
LDHD_HUMAN
resolver
uniprot_sec
Q8IZK5
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by oxalate. {ECO:0000269|PubMed:38373542}.
uniprot
proteins
amino_acid_sequence
MARLLRSATWELFPWRGYCSQKAKGELCRDFVEALKAVVGGSHVSTAAVVREQHGRDESVHRCEPPDAVVWPQNVEQVSRLAALCYRQGVPIIPFGTGTGLEGGVCAVQGGVCVNLTHMDRILELNQEDFSVVVEPGVTRKALNAHLRDSGLWFPVDPGADASLCGMAATGASGTNAVRYGTMRDNVLNLEVVLPDGRLLHTAGRGRHFRFGFWPEIPHHTAWYSPCVSLGRRKSAAGYNLTGLFVGSEGTLGLITATTLRLHPAPEATVAATCAFPSVQAAVDSTVHILQAAVPVARIEFLDEVMMDACNRYSKLNCLVAPTLFLEFHGSQQALEEQLQRTEEIVQQNGASDFSWAKEAEERSRLWTARHNAWYAALATRPGCKGYSTDVCVPISRLPEIVVQTKEDLNASGLTGSIVGHVGDGNFHCILLVNPDDAEELGRVKAFAEQLGRRALALHGTCTGEHGIGMGKRQLLQEEVGAVGVETMRQLKAVLDPQGLMNPGKVL
uniprot
proteins
disease_involvement
DISEASE: D-lactic aciduria with gout (DLACD) [MIM:245450]: An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid. {ECO:0000269|PubMed:30931947, ECO:0000269|PubMed:38373542}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.98.-
uniprot
proteins
function
FUNCTION: The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom. It includes D-lactate which is generated in small amounts either endogenously through the methylglyoxal metabolism pathway or exogenously via intestinal bacterial activity and dietary intake. The dehydrogenase acts specifically on D-lactate, not on its stereoisomer L-lactate, and prevents the toxic accumulation of D-lactate in the organism (PubMed:30931947, PubMed:38373542). By converting branched-chain D-2-hydroxyacids into branched-chain ketoacids, it may indirectly regulate branched-chain amino acid metabolism (By similarity). {ECO:0000250|UniProtKB:Q7TNG8, ECO:0000269|PubMed:30931947, ECO:0000269|PubMed:38373542}.
uniprot
proteins
mass_dalton
54871
uniprot
proteins
protein_family
FAD-binding oxidoreductase/transferase type 4 family
uniprot
proteins
pubmed
12127981
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30931947
uniprot
proteins
pubmed
38373542
uniprot
proteins
sequence_length
507
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q7TNG8}.
uniprot
proteins