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

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 1130 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	is_active_in	Golgi membrane	Component	31492851
2	Homo sapiens	IEA	located_in	Golgi membrane	Component	-
3	Homo sapiens	IDA	enables	aldehyde dehydrogenase (NAD+) activity	Function	20207735 21338592 31492851
4	Homo sapiens	IEA	enables	aldehyde dehydrogenase (NAD+) activity	Function	-
5	Homo sapiens	IMP	enables	aldehyde dehydrogenase (NAD+) activity	Function	40233740
6	Homo sapiens	ISS	enables	aldehyde dehydrogenase (NAD+) activity	Function	-
7	Homo sapiens	IDA	enables	L-aminoadipate-semialdehyde dehydrogenase [NAD(P)+] activity	Function	20207735
8	Homo sapiens	IEA	enables	L-aminoadipate-semialdehyde dehydrogenase [NAD(P)+] activity	Function	-
9	Homo sapiens	IMP	enables	L-aminoadipate-semialdehyde dehydrogenase [NAD(P)+] activity	Function	16491085 20554659 31302938 31652343 36225138 38604394
10	Homo sapiens	IPI	enables	protein binding	Function	21988832 32296183
11	Homo sapiens	IEA	located_in	nucleus	Component	-
12	Homo sapiens	HTP	located_in	mitochondrion	Component	34800366
13	Homo sapiens	IDA	located_in	mitochondrion	Component	20207735
14	Homo sapiens	IEA	located_in	mitochondrion	Component	-
15	Homo sapiens	TAS	located_in	mitochondrial matrix	Component	-
16	Homo sapiens	IDA	located_in	cytosol	Component	20207735 31492851
17	Homo sapiens	IEA	located_in	cytosol	Component	-
18	Homo sapiens	IDA	is_active_in	plasma membrane	Component	31492851 40233740
19	Homo sapiens	IEA	located_in	plasma membrane	Component	-
20	Homo sapiens	ISS	involved_in	aldehyde metabolic process	Process	-
21	Homo sapiens	IDA	involved_in	Golgi to endosome transport	Process	31492851
22	Homo sapiens	TAS	involved_in	sensory perception of sound	Process	9417906
23	Homo sapiens	IDA	involved_in	endosome to lysosome transport	Process	31492851
24	Homo sapiens	IDA	enables	betaine-aldehyde dehydrogenase (NAD+) activity	Function	20207735
25	Homo sapiens	IEA	enables	betaine-aldehyde dehydrogenase (NAD+) activity	Function	-
26	Homo sapiens	TAS	enables	betaine-aldehyde dehydrogenase (NAD+) activity	Function	-
27	Homo sapiens	IEA	enables	oxidoreductase activity	Function	-
28	Homo sapiens	IEA	enables	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	Function	-
29	Homo sapiens	IDA	enables	oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	Function	40233740
30	Homo sapiens	IEA	involved_in	glycine betaine biosynthetic process from choline	Process	-
31	Homo sapiens	IEA	involved_in	L-lysine catabolic process	Process	-
32	Homo sapiens	IMP	involved_in	L-lysine catabolic process	Process	16491085
33	Homo sapiens	IEA	involved_in	L-lysine catabolic process to acetyl-CoA via L-saccharopine	Process	-
34	Homo sapiens	IEA	involved_in	L-lysine catabolic process to acetyl-CoA via L-pipecolate	Process	-
35	Homo sapiens	IMP	involved_in	L-lysine catabolic process to acetyl-CoA via L-pipecolate	Process	36225138
36	Homo sapiens	TAS	involved_in	choline catabolic process	Process	-
37	Homo sapiens	IDA	enables	identical protein binding	Function	20207735
38	Homo sapiens	IPI	enables	identical protein binding	Function	32296183
39	Homo sapiens	IDA	involved_in	negative regulation of Golgi to plasma membrane protein transport	Process	31492851
40	Homo sapiens	IDA	involved_in	plasma membrane to endosome transport	Process	31492851
41	Homo sapiens	HDA	located_in	extracellular exosome	Component	23533145
42	Homo sapiens	IDA	involved_in	energy homeostasis	Process	31492851
43	Homo sapiens	IDA	involved_in	negative regulation of ferroptosis	Process	40233740
44	Homo sapiens	IDA	involved_in	negative regulation of endosome to plasma membrane protein transport	Process	31492851