ALDH3A2

  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ALDH3A2 (HGNC:403) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
aldehyde dehydrogenase 3 family member A2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SLS, ALDH10
Alias symbols
FALDH
%HI
53.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.83(Read more about gnomAD LOEUF score)
Cytoband
17p11.2
Genomic Coordinates
GRCh37/hg19: chr17:19551449-19580909 NCBI Ensembl UCSC
GRCh38/hg38: chr17:19648136-19677596 NCBI Ensembl UCSC
MANE Select Transcript
NM_000382.3 ENST00000176643.11 (Read more about MANE Select)
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:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). 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|Pu... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28861
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)