Carnitine palmitoyltransferase II

Carnitine palmitoyltransferase II

Carnitine palmitoyltransferase II, also known as CPT2, is a human gene.cite web | title = Entrez Gene: CPT2 carnitine palmitoyltransferase II| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1376| accessdate = ]

PBB_Summary
section_title =
summary_text = Carnitine palmitoyltransferase II precursor (CPT2) is a nuclear protein which is transported to the mitochondrial inner membrane. CPT2 together with carnitine palmitoyltransferase I oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders and carnitine palmitoyltransferase II deficiency.cite web | title = Entrez Gene: CPT2 carnitine palmitoyltransferase II| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1376| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Bonnefont JP, Demaugre F, Prip-Buus C, "et al." |title=Carnitine palmitoyltransferase deficiencies. |journal=Mol. Genet. Metab. |volume=68 |issue= 4 |pages= 424–40 |year= 2000 |pmid= 10607472 |doi= 10.1006/mgme.1999.2938
*cite journal | author=van der Leij FR, Huijkman NC, Boomsma C, "et al." |title=Genomics of the human carnitine acyltransferase genes. |journal=Mol. Genet. Metab. |volume=71 |issue= 1-2 |pages= 139–53 |year= 2000 |pmid= 11001805 |doi= 10.1006/mgme.2000.3055
*cite journal | author=Sigauke E, Rakheja D, Kitson K, Bennett MJ |title=Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. |journal=Lab. Invest. |volume=83 |issue= 11 |pages= 1543–54 |year= 2003 |pmid= 14615409 |doi=
*cite journal | author=Minoletti F, Colombo I, Martin AL, "et al." |title=Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization. |journal=Genomics |volume=13 |issue= 4 |pages= 1372–4 |year= 1992 |pmid= 1339389 |doi=
*cite journal | author=Taroni F, Verderio E, Fiorucci S, "et al." |title=Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=89 |issue= 18 |pages= 8429–33 |year= 1992 |pmid= 1528846 |doi=
*cite journal | author=Finocchiaro G, Taroni F, Rocchi M, "et al." |title=cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 23 |pages= 10981 |year= 1992 |pmid= 1961767 |doi=
*cite journal | author=Finocchiaro G, Taroni F, Rocchi M, "et al." |title=cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 2 |pages= 661–5 |year= 1991 |pmid= 1988962 |doi=
*cite journal | author=Finocchiaro G, Colombo I, DiDonato S |title=Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver. |journal=FEBS Lett. |volume=274 |issue= 1-2 |pages= 163–6 |year= 1991 |pmid= 2174799 |doi=
*cite journal | author=Verderio E, Cavadini P, Montermini L, "et al." |title=Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. |journal=Hum. Mol. Genet. |volume=4 |issue= 1 |pages= 19–29 |year= 1995 |pmid= 7711730 |doi=
*cite journal | author=Britton CH, Schultz RA, Zhang B, "et al." |title=Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 6 |pages= 1984–8 |year= 1995 |pmid= 7892212 |doi=
*cite journal | author=Gellera C, Verderio E, Floridia G, "et al." |title=Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32. |journal=Genomics |volume=24 |issue= 1 |pages= 195–7 |year= 1995 |pmid= 7896283 |doi= 10.1006/geno.1994.1605
*cite journal | author=Montermini L, Wang H, Verderio E, "et al." |title=Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene. |journal=Biochim. Biophys. Acta |volume=1219 |issue= 1 |pages= 237–40 |year= 1994 |pmid= 8086471 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Taroni F, Verderio E, Dworzak F, "et al." |title=Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. |journal=Nat. Genet. |volume=4 |issue= 3 |pages= 314–20 |year= 1993 |pmid= 8358442 |doi= 10.1038/ng0793-314
*cite journal | author=Verderio E, Cavadini P, Pandolfo M, "et al." |title=Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene. |journal=Hum. Mol. Genet. |volume=2 |issue= 3 |pages= 334 |year= 1993 |pmid= 8499929 |doi=
*cite journal | author=Bonnefont JP, Taroni F, Cavadini P, "et al." |title=Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. |journal=Am. J. Hum. Genet. |volume=58 |issue= 5 |pages= 971–8 |year= 1996 |pmid= 8651281 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Wataya K, Akanuma J, Cavadini P, "et al." |title=Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. |journal=Hum. Mutat. |volume=11 |issue= 5 |pages= 377–86 |year= 1998 |pmid= 9600456 |doi= 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E |doilabel=10.1002/(SICI)1098-1004(1998)11:5377::AID-HUMU53.0.CO;2-E
*cite journal | author=Yang BZ, Ding JH, Dewese T, "et al." |title=Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. |journal=Mol. Genet. Metab. |volume=64 |issue= 4 |pages= 229–36 |year= 1998 |pmid= 9758712 |doi= 10.1006/mgme.1998.2711
*cite journal | author=Taggart RT, Smail D, Apolito C, Vladutiu GD |title=Novel mutations associated with carnitine palmitoyltransferase II deficiency. |journal=Hum. Mutat. |volume=13 |issue= 3 |pages= 210–20 |year= 1999 |pmid= 10090476 |doi= 10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0 |doilabel=10.1002/(SICI)1098-1004(1999)13:3210::AID-HUMU53.0.CO;2-0

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = no
update_citations = yes


Wikimedia Foundation. 2010.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Carnitine palmitoyltransferase I — carnitine palmitoyltransferase 1A (liver) Identifiers Symbol CPT1A Alt. symbols CPT1 Entrez 1374 …   Wikipedia

  • Carnitine palmitoyltransferase II deficiency — Classification and external resources Carnitine ICD 9 …   Wikipedia

  • Carnitine palmitoyltransferase I deficiency — Infobox Disease Name = PAGENAME Caption = Carnitine DiseasesDB = 32535 ICD10 = ICD9 = ICD9|277.85 ICDO = OMIM = 255120 MedlinePlus = eMedicineSubj = ped eMedicineTopic = 321 MeshName = MeshNumber = Carnitine palmitoyltransferase I deficiency is a …   Wikipedia

  • carnitine palmitoyltransferase deficiency — car·ni·tine pal·mi·toyl·trans·fer·ase de·fi·cien·cy (kahrґnĭ tēn pahl″mĭ toil transґfər ās) metabolic disorders of long chain fatty acid oxidation caused by mutations in the genes encoding carnitine… …   Medical dictionary

  • carnitine palmitoyltransferase I deficiency — a rare autosomal recessive disorder caused by mutations in the CPT1A gene (locus: 11q13), which encodes carnitine palmitoyltransferase IA. It is characterized by severe episodes of hypoketotic hypoglycemia, hepatomegaly, and encephalopathy,… …   Medical dictionary

  • carnitine palmitoyltransferase II deficiency — an autosomal recessive disorder caused by mutations in the CPT2 gene (locus: 1p32), which encodes carnitine palmitoyltransferase II; it occurs in 3 forms. The lethal neonatal and infantile forms are characterized by nonketotic hypoglycemia,… …   Medical dictionary

  • Deficit en carnitine palmitoyltransferase I — Déficit en carnitine palmitoyltransférase I Le déficit en carnitine palmitoyltransférase I est une maladie métabolique congénitale par trouble de l’oxydation mitochondriale des acides gras à longue chaîne. L’oxydation hépatique des acides gras… …   Wikipédia en Français

  • Deficit en carnitine palmitoyltransferase II — Déficit en carnitine palmitoyltransférase II Déficit en carnitine palmitoyltransférase II Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Déficit En Carnitine Palmitoyltransférase I — Le déficit en carnitine palmitoyltransférase I est une maladie métabolique congénitale par trouble de l’oxydation mitochondriale des acides gras à longue chaîne. L’oxydation hépatique des acides gras fournit de l’énergie en cas d’épuisement des… …   Wikipédia en Français

  • Déficit En Carnitine Palmitoyltransférase II — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”