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FLASH GENE

Symbol

OXSM

contributors: mct - updated : 08-12-2020

HGNC name	3-oxoacyl-ACP synthase, mitochondrial
HGNC id	26063

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	3p24.2      Physical location : 25.831.562 - 25.836.024
Synonym name	beta-ketoacyl synthase
	mitochondrial beta-ketoacyl synthase
	type II mitochondrial beta-ketoacyl synthase
	acyl-malonyl acyl carrier protein-condensing enzyme
Synonym symbol(s)	FASN2D, FLJ20604, KS, KASI, CEM1
EC.number	2.3.1.41

DNA

TYPE	functioning gene
STRUCTURE	4.46 kb     4 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_017897 3 - 1537 NP_060367 - 459 - 2005 15668256 isoform 1 NM_001145391 4 - 1288 NP_001138863 - 376 - 2005 15668256 isoform 2

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Homo sapiens Digestive liver       highly Homo sapiens Lymphoid/Immune spleen       moderately Homo sapiens Nervous brain       moderately Homo sapiens Reproductive female system placenta     moderately Homo sapiens Respiratory lung       moderately Homo sapiens Urinary kidney       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly Homo sapiens

cell lineage
cell lines
fluid/secretion	lymph

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal sequence element of approximately 38 AA that functions as a mitochondrial targeting sequence
	an acyl carrier domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to murine Oxsm (85.2pc)
	homolog to rattus Oxsm (86.4pc)

Homologene

FAMILY

beta-ketoacyl-ACP synthases family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytosolic

basic FUNCTION	multifunctional protein catalyzing the formation of long- chain fatty acids from acetyl-coa, malonyl-coa and NADPH
	having 7 catalytic activities and an acyl carrier protein
	may play an important role in the generation of octanoyl-acyl carrier protein, the lipoic acid precursor, as well as longer chain fatty acids that are required for optimal mitochondrial function
	accelerated cell cycle and an anti-apoptotic role for OXSM in glioma cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

fatty acid biosynthesis

a component

homodimer which is arranged in a head to tail fashion

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

inhibited by

cerulenin

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

autoantibodies have been found in patients with cancer-associated retinopathy and autoimmune retinopathy without diagnosed cancer. These autoantibodies have the capacity to induce pathogenic effect on retinal cells by decreasing cell survival by blocking the CA2 cellular functions (Adamus 2009)

Variant & Polymorphism

Candidate gene
Marker
Therapy target	anti-CA2 antibody may be a useful tool for the differential diagnosis of AIP and pancreatic cancer (Hosoda 2008)

ANIMAL & CELL MODELS

reduction of mitochondrial 3-oxoacyl-ACP synthase (Oxsm) by hyperglycemia is associated with deficiency of alpha-lipoic acid synthetic pathway in kidney of diabetic mice