ALDH3A2
entrez
224
canonical
uniprot
P51648
canonical
ensembl
ENSG00000072210
resolver
ensp
ENSP00000176643
resolver
ensp
ENSP00000345774
resolver
ensp
ENSP00000461916
resolver
ensp
ENSP00000500092
resolver
ensp
ENSP00000500380
resolver
ensp
ENSP00000547817
resolver
ensp
ENSP00000679810
resolver
genesymbol
ALDH3A2
resolver
genesymbol_syn
ALDH10
resolver
genesymbol_syn
FALDH
resolver
hgnc
HGNC:403
resolver
uniprot
Q6I9T3
resolver
uniprot
Q93011
resolver
uniprot
Q96J37
resolver
uniprot_entry
AL3A2_HUMAN
resolver
uniprot_sec
Q6I9T3
resolver
uniprot_sec
Q93011
resolver
uniprot_sec
Q96J37
resolver
amino_acid_sequence
MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENLPEWVTAKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKLLPQYLDQDLYIVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIVCRRITWGKYMNCGQTCIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKIAFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMIDETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDWGKFFLLKRFNKEKLGLLLLTFLGIVAAVLVKAEYY
uniprot
proteins
disease_involvement
DISEASE: Sjoegren-Larsson syndrome (SLS) [MIM:270200]: An autosomal recessive neurocutaneous disorder characterized by a combination of severe intellectual disability, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. {ECO:0000269|PubMed:10577908, ECO:0000269|PubMed:10792573, ECO:0000269|PubMed:8528251, ECO:0000269|PubMed:9254849, ECO:0000269|PubMed:9829906}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.2.1.3
uniprot
proteins
ec_number
1.2.1.94
uniprot
proteins
function
FUNCTION: Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:18035827, PubMed:18182499, PubMed:22633490, PubMed:25047030, PubMed:9133646, PubMed:9662422). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490). {ECO:0000269|PubMed:18035827, ECO:0000269|PubMed:18182499, ECO:0000269|PubMed:22633490, ECO:0000269|PubMed:25047030, ECO:0000269|PubMed:9133646, ECO:0000269|PubMed:9662422}.
uniprot
proteins
mass_dalton
54848
uniprot
proteins
mutagenesis
MUTAGEN 112; /note="N->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:25047030"; MUTAGEN 207; /note="E->Q: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:25047030"; MUTAGEN 241; /note="C->S: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:25047030"; MUTAGEN 331; /note="E->Q: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:25047030"; MUTAGEN 410; /note="Y->F: Decreased enzyme activity with dodecanal and hexadecanal. No effect on enzyme activity with octanal."; /evidence="ECO:0000269|PubMed:25047030"; MUTAGEN 445..485; /note="Missing: Decreased enzyme activity with dodecanal. Strongly decreased enzyme activity with hexadecanal. No effect on enzyme activity with octanal."; /evidence="ECO:0000269|PubMed:25047030
uniprot
proteins
protein_family
Aldehyde dehydrogenase family
uniprot
proteins
pubmed
10577908
uniprot
proteins
pubmed
10792573
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18035827
uniprot
proteins
pubmed
18182499
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22633490
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25047030
uniprot
proteins
pubmed
8528251
uniprot
proteins
pubmed
9027499
uniprot
proteins
pubmed
9070922
uniprot
proteins
pubmed
9133646
uniprot
proteins
pubmed
9254849
uniprot
proteins
pubmed
9662422
uniprot
proteins
pubmed
9829906
uniprot
proteins
sequence_length
485
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:9133646}; Single-pass membrane protein {ECO:0000305|PubMed:25047030, ECO:0000305|PubMed:9133646}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:9133646}; Single-pass membrane protein {ECO:0000305|PubMed:25047030, ECO:0000305|PubMed:9133646}; Cytoplasmic side {ECO:0000250|UniProtKB:P30839}.
uniprot
proteins
transmembrane_region
TRANSMEM 464..484; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins