1. Gene
  2. OXSM - 3-oxoacyl-ACP synthase, mitochondrial Gene

OXSM - 3-oxoacyl-ACP synthase, mitochondrial Gene

Homo sapiens

Also known as KS; CEM1; KASI; FASN2D

Gene ID: 54995 | Gene type: protein coding

About OXSM

Cytogenetic location: 3p24.2 Genomic coordinates (GRCh38): 3:25,790,090-25,794,531 (from NCBI)

This gene has 9 transcripts (splice variants), 201 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 3.3), thyroid (RPKM 1.6) and 25 other tissues.

Summary

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]

OXSM Products(2)

mRNA Protein Name
NM_001145391.2 NP_001138863.1 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform 2 precursor
NM_017897.3 NP_060367.1 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial isoform 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables 3-oxoacyl-[acyl-carrier-protein] synthase activity IDA
IDA: Inferred from direct assay
15668256 GOA
Biological Process GO Annotation Evidence Reference Source
involved in acyl-CoA metabolic process IDA
IDA: Inferred from direct assay
15668256 GOA
involved in medium-chain fatty acid biosynthetic process IDA
IDA: Inferred from direct assay
15668256 GOA
involved in short-chain fatty acid biosynthetic process IDA
IDA: Inferred from direct assay
15668256 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrion IMP
IMP: Inferred from mutant phenotype
15668256 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OXSM Protein Structure

ketoacyl-synt

ketoacyl-synt: Beta-ketoacyl synthase, N-terminal domain (42 - 290)

Ketoacyl-synt_C

Ketoacyl-synt_C: Beta-ketoacyl synthase, C-terminal domain (299 - 414)

  • 0
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  • 400
  • 459 a.a.
Protein Preferred Names Protein Names

3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial

3-ketoacyl-acyl carrier protein synthase

Related Diseases

Diseases Alias
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Zoophobia

Fear Of Animals

Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type

Gd Iii

Gaucher Disease, Chronic Neuronopathic Type

Gaucher Disease, Juvenile And Adult, Cerebral

Gaucher Disease Type 3

GD3

Gaucher'S Disease Type Iii

Gaucher Disease Type Iii

Gd 3

Cerebral Juvenile And Adult Form Of Gaucher Disease

Chronic Neuronopathic Gaucher Disease

Gaucher Disease 3

Cerebral, Juvenile And Adult, Gaucher Disease

Gaucher Disease Chronic Neuronopathic Type

Gaucher Disease Type Ii

Subacute Neuronopathic Gaucher Disease

Type 3 Gaucher Disease

Gaucher Disease, Type 3

Gaucher Disease, Type 2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus OXSM VGNC VGNC:32513
Canis familiaris OXSM VGNC VGNC:44204
Felis catus OXSM VGNC VGNC:102794
Rattus norvegicus OXSM RGD RGD:1311092
Mus musculus OXSM MGD MGI:1918397
Macaca mulatta OXSM VGNC VGNC:75681