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Aldh4a1 Gene Detail
Summary
  • Symbol
    Aldh4a1
  • Name
    aldehyde dehydrogenase 4 family, member A1
  • Synonyms
    A930035F14Rik, Ahd-1, Ahd1, ALDH4, P5CDH, Ssdh1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443883
    NCBI Gene: 212647
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:139350177-139377001 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 70.79 cM
  • Mapping Data
    29 experiments
Strain
Comparison
more
  • SNPs within 2kb
    997 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443883
 protein coding gene Chr4:139348404-139377002 (+)
129S1/SvImJ ENSMUSG00200041834
 protein coding gene Chr4:132765595-132792418 (+)
A/J ENSMUSG00195035022
 protein coding gene Chr4:134109171-134135999 (+)
AKR/J ENSMUSG00220045978
 protein coding gene Chr4:133107815-133134707 (+)
BALB/cJ ENSMUSG00180043544
 protein coding gene Chr4:131747780-131774670 (+)
C3H/HeJ ENSMUSG00175032588
 protein coding gene Chr4:132775861-132802752 (+)
C57BL/6NJ ENSMUSG00215047377
 protein coding gene Chr4:134294678-134321504 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026716
 protein coding gene Chr4:129296066-129322977 (+)
CAST/EiJ ENSTCUG00005012597
 protein coding gene Chr4:133734047-133760993 (+)
CBA/J ENSMUSG00210028476
 protein coding gene Chr4:132399888-132426776 (+)
DBA/2J ENSMUSG00185050036
 protein coding gene Chr4:133913597-133940486 (+)
FVB/NJ ENSMUSG00205039306
 protein coding gene Chr4:132165591-132192488 (+)
JF1/MsJ ENSUMUG00000031673
 protein coding gene Chr4:134607349-134634144 (+)
LP/J ENSMUSG00230036265
 protein coding gene Chr4:137704182-137731006 (+)
NOD/ShiLtJ ENSMUSG00190023588
 protein coding gene Chr4:132167986-132194815 (+)
NZO/HlLtJ ENSMUSG00225007954
 protein coding gene Chr4:143658876-143685701 (+)
PWK/PhJ ENSLUMG00010042625
 protein coding gene Chr4:131593809-131620654 (+)
SPRET/EiJ ENSMSPG00010032096
 protein coding gene Chr4:133649739-133675702 (+)
WSB/EiJ ENSIUOG00005042354
 protein coding gene Chr4:132053496-132080362 (+)



Homology
more
  • Human Ortholog
    ALDH4A1, aldehyde dehydrogenase 4 family member A1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALDH4A1, aldehyde dehydrogenase 4 family member A1
  • Synonyms
    ALDH4, P5CD, P5CDh
  • Links
    NCBI Gene ID: 8659
    UniProt: P30038

  • Chr Location
    1p36.13; chr1:18871425-18902799 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aldh4a1 mouse models; 1 with human ALDH4A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 2 alleles in 2 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygosity for a hyperprolinemia type 2 related mutation leads to elevated blood, urine and brain proline levels, premature death, developmental delays, lower birth weight, small brains and other neurological deficits.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    725
  • Tissues
    125
  • cDNA Data
    169
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028737 Ensembl Gene Model | MGI Sequence Detail 26825 C57BL/6J ±  kb
    transcript ENSMUST00000039818 Ensembl | MGI Sequence Detail 3382 Not Applicable  
    polypeptide ENSMUSP00000043821 Ensembl | MGI Sequence Detail 562 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 171
      cDNA 169
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-1205, MGD-MRK-1212, MGD-MRK-16330, MGI:1353453, MGI:99552
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 14
      Phenotypes 14
    • Earliest
      J:6127 Holmes RS, Genetics and ontogeny of aldehyde dehydrogenase isozymes in the mouse: localization of Ahd-1 encoding the mitochondrial isozyme on chromosome 4. Biochem Genet. 1978 Dec;16(11-12):1207-18
    • Latest
      J:385019 Kraemer BR, et al., Increased susceptibility to 4-HNE-induced toxicity and impaired development in a model of ALDH4A1-deficient pediatric epilepsy carrying the S352L variant. Commun Biol. 2026 Mar 14;9(1)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory