• Gene id: 54995

Gene Summary

• Gene Symbol: OXSM   Gene   UCSC   Ensembl
• Aliases: CEM1, FASN2D, KASI, KS
• Gene name: 3-oxoacyl-ACP synthase, mitochondrial
• Alternate names: 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial, 3-ketoacyl-acyl carrier protein synthase, 3-oxoacyl-acyl-carrier-protein synthase, acyl-malonyl acyl carrier protein-condensing enzyme, beta-ketoacyl synthase, beta-ketoacyl-ACP synthase, type II mitocho,
• Gene location: 3p24.2 (25788282: 25794533)     Exons: 3     NC_000003.12
• Gene summary(Entrez): This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]

Protein Summary

• Protein general information: Q9NWU1  
  • Name: 3 oxoacyl [acyl carrier protein] synthase, mitochondrial (EC 2.3.1.41) (Beta ketoacyl ACP synthase)
  • Length: 459  
  • Mass: 48843
  • Tissue specificity: Widely expressed. Higher expression in heart, skeletal muscle, liver and kidney which contain high levels of active mitochondria. {ECO
• Sequence:

  MSNCLQNFLKITSTRLLCSRLCQQLRSKRKFFGTVPISRLHRRVVITGIGLVTPLGVGTHLVWDRLIGGESGIVS
  LVGEEYKSIPCSVAAYVPRGSDEGQFNEQNFVSKSDIKSMSSPTIMAIGAAELAMKDSGWHPQSEADQVATGVAI
  GMGMIPLEVVSETALNFQTKGYNKVSPFFVPKILVNMAAGQVSIRYKLKGPNHAVSTACTTGAHAVGDSFRFIAH
  GDADVMVAGGTDSCISPLSLAGFSRARALSTNSDPKLACRPFHPKRDGFVMGEGAAVLVLEEYEHAVQRRARIYA
  EVLGYGLSGDAGHITAPDPEGEGALRCMAAALKDAGVQPEEISYINAHATSTPLGDAAENKAIKHLFKDHAYALA
  VSSTKGATGHLLGAAGAVEAAFTTLACYYQKLPPTLNLDCSEPEFDLNYVPLKAQEWKTEKRFIGLTNSFGFGGT
  NATLCIAGL

• Structural information:
  • Interpro: IPR017568  IPR000794  IPR018201  IPR014031  IPR014030   IPR020841  IPR016039  
  • Prosite: PS00606
  • PDB: 2C9H 2IWY 2IWZ
  • PDBsum: 2C9H 2IWY 2IWZ
  • STRING: ENSP00000280701
• Other Databases: GeneCards:  OXSM  Malacards:  OXSM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004315	3-oxoacyl-[acyl-carrier-protein] synthase activity	IDA	molecular function
GO:0006637	acyl-CoA metabolic process	IDA	biological process
GO:0005739	mitochondrion	IMP	cellular component
GO:0051790	short-chain fatty acid biosynthetic process	IDA	biological process
GO:0051792	medium-chain fatty acid biosynthetic process	IDA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0004315	3-oxoacyl-[acyl-carrier-protein] synthase activity	IBA	molecular function
GO:0006633	fatty acid biosynthetic process	IBA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004315	3-oxoacyl-[acyl-carrier-protein] synthase activity	IEA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006633	fatty acid biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01212	Fatty acid metabolism
hsa00061	Fatty acid biosynthesis
hsa00780	Biotin metabolism

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray