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Aldh6a1 Gene Detail
Summary
  • Symbol
    Aldh6a1
  • Name
    aldehyde dehydrogenase family 6, subfamily A1
  • Synonyms
    1110038I05Rik, MGC:37325, Mmsdh
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915077
    NCBI Gene: 104776
Location & Maps
more
  • Sequence Map
    Chr12:84430723-84450950 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20228 bp   ±  kb flank

  • Genome Browsers
Homology
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  • Human Ortholog
    ALDH6A1, aldehyde dehydrogenase 6 family member A1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ALDH6A1, aldehyde dehydrogenase 6 family member A1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MMSADHA, MMSDH
  • Links
    NCBI Gene ID: 4329
    neXtProt AC: NX_Q02252

  • Chr Location
    14q24.3; chr14:74057662-74084493 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ALDH6A1 associations

Human Disease Mouse Models
       Methylmalonate Semialdehyde Dehydrogenase Deficiency; MMSDHD   OMIM: 614105
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Aldh6a1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021238 Ensembl Gene Model | MGI Sequence Detail 20228 C57BL/6J ±  kb
transcript ENSMUST00000085192 Ensembl | MGI Sequence Detail 3340 Not Applicable  
polypeptide ENSMUSP00000082288 Ensembl | MGI Sequence Detail 535 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    165 from dbSNP Build 137
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000003930 methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrial
  • EC
  • InterPro Domains
    IPR016163 Aldehyde dehydrogenase, C-terminal
    IPR016160 Aldehyde dehydrogenase, cysteine active site
    IPR015590 Aldehyde dehydrogenase domain
    IPR016162 Aldehyde dehydrogenase N-terminal domain
    IPR016161 Aldehyde/histidinol dehydrogenase
    IPR010061 Methylmalonate-semialdehyde dehydrogenase
Molecular
Reagents
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  • All nucleic 142
    cDNA 141
    Primer pair 1

    Microarray probesets 2
Other
Accession IDs
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MGI:1888689, MGI:2144782
References
more
  • Summaries
    All 36
    Developmental Gene Expression 4
    Gene Ontology 8
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory