GenTIGS

Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) Associated conditions: 1. Pyridoxine-dependent epilepsy

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_001182.5	NP_001173.2	NC_000005.10	(126541840..126595218, complement)	Reference GRCh38.p14 Primary Assembly	P49419
2	REVIEWED	NM_001201377.2	NP_001188306.1	NC_000005.10	(126541840..126595218, complement)	Reference GRCh38.p14 Primary Assembly	P49419
3	REVIEWED	NM_001202404.2	NP_001189333.2	NC_000005.10	(126541840..126595218, complement)	Reference GRCh38.p14 Primary Assembly	P49419

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 1113 reference articles

Variant Information Aldehyde dehydrogenase 7 family member A1 (ALDH7A1) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Aldehyde dehydrogenase 7 family member A1 (ALDH7A1)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	enables	aldehyde dehydrogenase (NAD+) activity	Function	20207735 21338592
2	Homo sapiens	ISS	enables	aldehyde dehydrogenase (NAD+) activity	Function	-
3	Homo sapiens	IEA	enables	L-aminoadipate-semialdehyde dehydrogenase activity	Function	-
4	Homo sapiens	IPI	enables	protein binding	Function	21988832
5	Homo sapiens	IEA	located_in	nucleus	Component	-
6	Homo sapiens	IDA	located_in	mitochondrion	Component	-
7	Homo sapiens	TAS	located_in	mitochondrial matrix	Component	-
8	Homo sapiens	IDA	located_in	cytosol	Component	-
9	Homo sapiens	ISS	involved_in	cellular aldehyde metabolic process	Process	-
10	Homo sapiens	TAS	involved_in	sensory perception of sound	Process	9417906
11	Homo sapiens	IDA	enables	betaine-aldehyde dehydrogenase activity	Function	20207735
12	Homo sapiens	TAS	enables	betaine-aldehyde dehydrogenase activity	Function	-
13	Homo sapiens	IEA	involved_in	glycine betaine biosynthetic process from choline	Process	-
14	Homo sapiens	TAS	involved_in	choline catabolic process	Process	-
15	Homo sapiens	IDA	enables	identical protein binding	Function	20207735
16	Homo sapiens	IEA	enables	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	Function	-
17	Homo sapiens	HDA	located_in	extracellular exosome	Component	23533145