• Gene id: 224

Gene Summary

• Gene Symbol: ALDH3A2   Gene   UCSC   Ensembl
• Aliases: ALDH10, FALDH, SLS
• Gene name: aldehyde dehydrogenase 3 family member A2
• Alternate names: aldehyde dehydrogenase family 3 member A2, aldehyde dehydrogenase 10, fatty aldehyde dehydrogenase, microsomal aldehyde dehydrogenase,
• Gene location: 17p11.2 (19648149: 19677595)     Exons: 14     NC_000017.11
• Gene summary(Entrez): Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutation
• OMIM: 609523

SNPs

rs2369679

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

Protein Summary

• Protein general information: P51648  
  • Name: Aldehyde dehydrogenase family 3 member A2 (EC 1.2.1.3) (EC 1.2.1.94) (Aldehyde dehydrogenase 10) (Fatty aldehyde dehydrogenase) (Microsomal aldehyde dehydrogenase)
  • Length: 485  
  • Mass: 54848
  • Tissue specificity: Detected in liver (at protein level). {ECO
• Sequence:

  MELEVRRVRQAFLSGRSRPLRFRLQQLEALRRMVQEREKDILTAIAADLCKSEFNVYSQEVITVLGEIDFMLENL
  PEWVTAKPVKKNVLTMLDEAYIQPQPLGVVLIIGAWNYPFVLTIQPLIGAIAAGNAVIIKPSELSENTAKILAKL
  LPQYLDQDLYIVINGGVEETTELLKQRFDHIFYTGNTAVGKIVMEAAAKHLTPVTLELGGKSPCYIDKDCDLDIV
  CRRITWGKYMNCGQTCIAPDYILCEASLQNQIVWKIKETVKEFYGENIKESPDYERIINLRHFKRILSLLEGQKI
  AFGGETDEATRYIAPTVLTDVDPKTKVMQEEIFGPILPIVPVKNVDEAINFINEREKPLALYVFSHNHKLIKRMI
  DETSSGGVTGNDVIMHFTLNSFPFGGVGSSGMGAYHGKHSFDTFSHQRPCLLKSLKREGANKLRYPPNSQSKVDW
  GKFFLLKRFNKEKLGLLLLTFLGIVAAVLVKAEYY

• Structural information:
  • Interpro: IPR016161  IPR016163  IPR016160  IPR029510  IPR016162   IPR015590  IPR012394  
  • Prosite: PS00070 PS00687
  • PDB: 4QGK
  • PDBsum: 4QGK
  • STRING: ENSP00000345774
• Other Databases: GeneCards:  ALDH3A2  Malacards:  ALDH3A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004028	3-chloroallyl aldehyde dehydrogenase activity	IBA	molecular function
GO:0046458	hexadecanal metabolic process	IDA	biological process
GO:0052814	medium-chain-aldehyde dehydrogenase activity	IDA	molecular function
GO:0050061	long-chain-aldehyde dehydrogenase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006081	cellular aldehyde metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016620	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IEA	molecular function
GO:0043878	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA	molecular function
GO:0001561	fatty acid alpha-oxidation	TAS	biological process
GO:0005778	peroxisomal membrane	TAS	cellular component
GO:0030148	sphingolipid biosynthetic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IDA	molecular function
GO:0006081	cellular aldehyde metabolic process	IDA	biological process
GO:0046577	long-chain-alcohol oxidase activity	IDA	molecular function
GO:0008544	epidermis development	IMP	biological process
GO:0007417	central nervous system development	IMP	biological process
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IMP	molecular function
GO:0033306	phytol metabolic process	IMP	biological process
GO:0004029	aldehyde dehydrogenase (NAD+) activity	IMP	molecular function
GO:0007422	peripheral nervous system development	IMP	biological process
GO:0006081	cellular aldehyde metabolic process	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00561	Glycerolipid metabolism
hsa00310	Lysine degradation
hsa00010	Glycolysis / Gluconeogenesis
hsa00280	Valine, leucine and isoleucine degradation
hsa00071	Fatty acid degradation
hsa00330	Arginine and proline metabolism
hsa00620	Pyruvate metabolism
hsa00410	beta-Alanine metabolism
hsa00380	Tryptophan metabolism
hsa00053	Ascorbate and aldarate metabolism
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Sjogren-Larsson syndrome	KEGG:H00162
Sjogren-Larsson syndrome	KEGG:H00162
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)