ALDH6A1
entrez
4329
canonical
uniprot
Q02252
canonical
ensembl
ENSG00000119711
resolver
ensp
ENSP00000342564
resolver
ensp
ENSP00000450436
resolver
genesymbol
ALDH6A1
resolver
genesymbol_syn
MMSDH
resolver
hgnc
HGNC:7179
resolver
uniprot
A0A024R6G4
resolver
uniprot
B2R609
resolver
uniprot
B4DFS8
resolver
uniprot
J3KNU8
resolver
uniprot
Q9UKM8
resolver
uniprot_entry
A0A024R6G4_HUMAN
resolver
uniprot_entry
MMSA_HUMAN
resolver
uniprot_sec
B2R609
resolver
uniprot_sec
B4DFS8
resolver
uniprot_sec
J3KNU8
resolver
uniprot_sec
Q9UKM8
resolver
amino_acid_sequence
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMDAAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPDIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR
uniprot
proteins
disease_involvement
DISEASE: Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105]: A metabolic disorder characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. {ECO:0000269|PubMed:10947204, ECO:0000269|PubMed:23835272}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.1.27
uniprot
proteins
function
FUNCTION: Malonate and methylmalonate semialdehyde dehydrogenase involved in the catabolism of valine, thymine, and compounds catabolized by way of beta-alanine, including uracil and cytidine. {ECO:0000269|PubMed:23835272}.
uniprot
proteins
mass_dalton
57840
uniprot
proteins
protein_family
Aldehyde dehydrogenase family
uniprot
proteins
pubmed
10947204
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1527093
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23835272
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
535
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305|PubMed:23835272}.
uniprot
proteins