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
- 0.97(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
ClinGen Curation ID:
CCID:006648
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:
- Sjogren-Larsson syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)