GenTIGS

Aldehyde dehydrogenase 3 family member A2 (ALDH3A2) Associated conditions: 1. Sjögren-Larsson syndrome

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000382.3	NP_000373.1	NC_000017.11	(19648135..19677595)	Reference GRCh38.p14 Primary Assembly	P51648
2	REVIEWED	NM_001031806.2	NP_001026976.1	NC_000017.11	(19648135..19677595)	Reference GRCh38.p14 Primary Assembly	P51648
3	REVIEWED	NM_001369136.1	NP_001356065.1	NC_000017.11	(19648135..19677595)	Reference GRCh38.p14 Primary Assembly	P51648
4	REVIEWED	NM_001369137.2	NP_001356066.1	NC_000017.11	(19648135..19677595)	Reference GRCh38.p14 Primary Assembly	P51648
5	REVIEWED	NM_001369138.2	NP_001356067.1	NC_000017.11	(19648135..19677595)	Reference GRCh38.p14 Primary Assembly	P51648
6	REVIEWED	NM_001369139.1	NP_001356068.1	NC_000017.11	(19648135..19677595)	Reference GRCh38.p14 Primary Assembly	P51648
7	REVIEWED	NM_001369146.2	NP_001356075.1	NC_000017.11	(19648135..19677595)	Reference GRCh38.p14 Primary Assembly	P51648
8	REVIEWED	NM_001369148.2	NP_001356077.1	NC_000017.11	(19648135..19677595)	Reference GRCh38.p14 Primary Assembly	P51648

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1151 reference articles

Variant Information Aldehyde dehydrogenase 3 family member A2 (ALDH3A2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Aldehyde dehydrogenase 3 family member A2 (ALDH3A2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Aldehyde dehydrogenase 3 family member A2 (ALDH3A2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	3-chloroallyl aldehyde dehydrogenase activity	Function	21873635
2	Homo sapiens	IBA	enables	aldehyde dehydrogenase (NAD+) activity	Function	21873635
3	Homo sapiens	IDA	enables	aldehyde dehydrogenase (NAD+) activity	Function	9133646
4	Homo sapiens	IMP	enables	aldehyde dehydrogenase (NAD+) activity	Function	8528251 15110319
5	Homo sapiens	IPI	enables	protein binding	Function	25047030
6	Homo sapiens	IBA	is_active_in	cytoplasm	Component	21873635
7	Homo sapiens	TAS	located_in	peroxisomal membrane	Component	-
8	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
9	Homo sapiens	TAS	located_in	cytosol	Component	-
10	Homo sapiens	IBA	involved_in	cellular aldehyde metabolic process	Process	21873635
11	Homo sapiens	IDA	involved_in	cellular aldehyde metabolic process	Process	9133646
12	Homo sapiens	NAS	involved_in	cellular aldehyde metabolic process	Process	8528251
13	Homo sapiens	IEA	involved_in	fatty acid metabolic process	Process	-
14	Homo sapiens	IMP	involved_in	central nervous system development	Process	8528251
15	Homo sapiens	IMP	involved_in	peripheral nervous system development	Process	8528251
16	Homo sapiens	IMP	involved_in	epidermis development	Process	8528251
17	Homo sapiens	IMP	involved_in	phytol metabolic process	Process	15110319
18	Homo sapiens	IPI	enables	protein homodimerization activity	Function	25047030
19	Homo sapiens	IDA	located_in	intracellular membrane-bounded organelle	Component	9133646
20	Homo sapiens	IEA	enables	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	Function	-
21	Homo sapiens	IDA	involved_in	hexadecanal metabolic process	Process	25047030
22	Homo sapiens	IDA	enables	long-chain-alcohol oxidase activity	Function	18035827
23	Homo sapiens	IDA	enables	long-chain-aldehyde dehydrogenase activity	Function	25047030
24	Homo sapiens	IDA	enables	medium-chain-aldehyde dehydrogenase activity	Function	25047030