Aldh5a1 aldhehyde dehydrogenase family 5, subfamily A1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Aldh5a1provided by MGI
Official Full Name: aldhehyde dehydrogenase family 5, subfamily A1provided by MGI
Primary source: MGI:MGI:2441982
See related: Ensembl:ENSMUSG00000035936 AllianceGenome:MGI:2441982
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ahd1; Ahd-1; SSADH; Ssdh1; 6330403E24Rik; D630032B01Rik
Summary: Predicted to enable several functions, including NAD binding activity; identical protein binding activity; and succinate-semialdehyde dehydrogenase (NAD+) activity. Acts upstream of or within carboxylic acid metabolic process and post-embryonic development. Located in mitochondrion. Used to study epilepsy. Human ortholog(s) of this gene implicated in succinic semialdehyde dehydrogenase deficiency. Orthologous to human ALDH5A1 (aldehyde dehydrogenase 5 family member A1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 11.4), frontal lobe adult (RPKM 11.3) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.1; 13 10.77 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (25091562..25121740, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (24907579..24937661, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of gamma-aminobutyric acid metabolism.
Title: Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
NSC model of SSADHD will be valuable in providing a first-tier screen for centrally-acting therapeutics and prioritizing therapeutic concepts of preclinical animal studies applicable to SSADHD
Title: In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.
These data show that enhanced, rather than compromised, GABA(A) receptor-mediated inhibition occurs in cortico-thalamic networks of SSADH(-/-) mice.
Title: Aberrant GABA(A) receptor-mediated inhibition in cortico-thalamic networks of succinic semialdehyde dehydrogenase deficient mice.
SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex
Title: SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.
Data showing an imbalance between tissue antioxidant defences and oxidative attack strongly indicate that oxidative stress is involved in the pathophysiology of Adlh5a1 deficiency in mice.
Title: Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice.
Normal SSADH activity in the Canavan disease (CD) mouse brain suggests that mental retardation and hypotonia seen in the CD mouse is not due to SSADH activity.
Title: Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency.
murine succinate semialdehyde dehydrogenase has a role in regulating myelin expression
Title: Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
Antiepileptic agents agents are studied ro their effectiveness in knockout mice.
Title: Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.
lipid and myelin abnormalities in Aldh5aI defficient animal may contribute to the pathophysiology.
Title: Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations.
Although our results suggest hippocampal and cortical dysfunction in Aldh5a1(-/-) brain, we found no evidence that accumulating key metabolites of SSADH deficiency directly induce impairment of energy metabolism.
Title: Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice).

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB501613 (e-PCR)
- UniSTS:208904

Aldh5a1 (e-PCR), detects polymorphism
- UniSTS:545890

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables NAD binding	ISO Inferred from Sequence Orthology more info
enables carboxylic acid binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables succinate-semialdehyde dehydrogenase (NAD+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables succinate-semialdehyde dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables succinate-semialdehyde dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in central nervous system development	ISO Inferred from Sequence Orthology more info
involved_in central nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within gamma-aminobutyric acid catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gamma-aminobutyric acid catabolic process	ISO Inferred from Sequence Orthology more info
involved_in gamma-aminobutyric acid catabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within gamma-aminobutyric acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glutamate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within succinate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in succinate metabolic process	ISO Inferred from Sequence Orthology more info
involved_in succinate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of synaptic transmission, GABAergic	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: succinate-semialdehyde dehydrogenase, mitochondrial

Names: NAD(+)-dependent succinic semialdehyde dehydrogenase; aldehyde dehydrogenase 1, mitochondrial; aldehyde dehydrogenase family 5 member A1; aldehyde dehydrogenase family 5, subfamily A1

NP_766120.1

EC 1.2.1.24

XP_036013867.1

EC 1.2.1.24

XP_036013868.1

EC 1.2.1.24

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_172532.3 → NP_766120.1 succinate-semialdehyde dehydrogenase, mitochondrial precursor

See identical proteins and their annotated locations for NP_766120.1

Status: VALIDATED

Source sequence(s)

AK052703, AK144030, AK164287, CB723582

Consensus CDS

CCDS26383.1

UniProtKB/Swiss-Prot

Q5SZW1, Q8BWF0

UniProtKB/TrEMBL

B2RS41

Related

ENSMUSP00000040591.7, ENSMUST00000037615.7

Conserved Domains (1) summary

TIGR01780
Location:66 → 516

SSADH; succinate-semialdehyde dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

25091562..25121740 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157974.1 → XP_036013867.1 succinate-semialdehyde dehydrogenase, mitochondrial isoform X1

Conserved Domains (1) summary

cd07103
Location:48 → 461

ALDH_F5_SSADH_GabD; Mitochondrial succinate-semialdehyde dehydrogenase and ALDH family members 5A1 and 5F1-like
XM_036157975.1 → XP_036013868.1 succinate-semialdehyde dehydrogenase, mitochondrial isoform X2

Conserved Domains (1) summary

cl11961
Location:66 → 455

ALDH-SF; NAD(P)+-dependent aldehyde dehydrogenase superfamily