OXCT1

From Wikipedia, the free encyclopedia

3-oxoacid CoA transferase 1

PDB rendering based on 1m3e.

Available structures: 1m3e, 1o9l, 1ooy, 1ooz, 1ope

Identifiers

Symbol(s)

OXCT1; OXCT; SCOT

External IDs

OMIM: 601424 MGI: 1914291 HomoloGene: 377

Gene ontology
Molecular Function:	• 3-oxoacid CoA-transferase activity • transferase activity
Cellular Component:	• mitochondrion
Biological Process:	• succinyl-CoA metabolic process • metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000436 (mRNA)
NP_000427 (protein)

NM_024188 (mRNA)
NP_077150 (protein)

Location

Chr 5: 41.77 - 41.91 Mb

Chr 15: 3.98 - 4.1 Mb

Pubmed search

[1]

[2]

3-oxoacid CoA transferase 1, also known as OXCT1, is a human gene.^[1]

This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency.^[1]

[edit] References

^ ^a ^b Entrez Gene: OXCT1 3-oxoacid CoA transferase 1.

[edit] Further reading

Pérez-Cerdá C, Merinero B, Sanz P, et al. (1992). "A new case of succinyl-CoA: acetoacetate transferase deficiency.". J. Inherit. Metab. Dis. 15 (3): 371-3. PMID 1405472.
Zołnierowicz S, Scisłowski PW, Swierczyński J, Zelewski L (1985). "Acetoacetate utilization by human placental mitochondria.". Placenta 5 (3): 271-6. PMID 6150478.
Kassovska-Bratinova S, Fukao T, Song XQ, et al. (1996). "Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.". Am. J. Hum. Genet. 59 (3): 519-28. PMID 8751852.
Fukao T, Song XQ, Mitchell GA, et al. (1997). "Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.". Pediatr. Res. 42 (4): 498-502. PMID 9380443.
Song XQ, Fukao T, Watanabe H, et al. (1998). "Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.". Hum. Mutat. 12 (2): 83-8. doi:10.1002/(SICI)1098-1004(1998)12:2<83::AID-HUMU2>3.0.CO;2-P. PMID 9671268.
Fukao T, Mitchell GA, Song XQ, et al. (2001). "Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.". Genomics 68 (2): 144-51. doi:10.1006/geno.2000.6282. PMID 10964512.
Tanaka H, Kohroki J, Iguchi N, et al. (2002). "Cloning and characterization of a human orthologue of testis-specific succinyl CoA: 3-oxo acid CoA transferase (Scot-t) cDNA.". Mol. Hum. Reprod. 8 (1): 16-23. PMID 11756565.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
Fukao T, Shintaku H, Kusubae R, et al. (2005). "Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis.". Pediatr. Res. 56 (6): 858-63. doi:10.1203/01.PDR.0000145297.90577.67. PMID 15496607.
Fukao T, Sakurai S, Rolland MO, et al. (2006). "A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.". Mol. Genet. Metab. 89 (3): 280-2. doi:10.1016/j.ymgme.2006.04.014. PMID 16765626.