Details for: CPT2
Associated with
Other Information
Genular Protein ID: 3740570257
Symbol: CPT2_HUMAN
Name: Carnitine palmitoyltransferase II
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1988962
Title: cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.
PubMed ID: 1988962
PubMed ID: 1961767
PubMed ID: 7711730
Title: Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
PubMed ID: 7711730
DOI: 10.1093/hmg/4.1.19
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 2174799
Title: Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver.
PubMed ID: 2174799
PubMed ID: 20538056
Title: Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.
PubMed ID: 20538056
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
PubMed ID: 1528846
Title: Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.
PubMed ID: 1528846
PubMed ID: 8358442
Title: Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
PubMed ID: 8358442
DOI: 10.1038/ng0793-314
PubMed ID: 8651281
Title: Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
PubMed ID: 8651281
PubMed ID: 9600456
Title: Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
PubMed ID: 9600456
DOI: 10.1002/(sici)1098-1004(1998)11:5<377::aid-humu5>3.0.co;2-e
PubMed ID: 9758712
Title: Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
PubMed ID: 9758712
PubMed ID: 10090476
Title: Novel mutations associated with carnitine palmitoyltransferase II deficiency.
PubMed ID: 10090476
DOI: 10.1002/(sici)1098-1004(1999)13:3<210::aid-humu5>3.0.co;2-0
PubMed ID: 11477613
Title: Antenatal presentation of carnitine palmitoyltransferase II deficiency.
PubMed ID: 11477613
DOI: 10.1002/ajmg.1457
PubMed ID: 14605500
Title: Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
PubMed ID: 14605500
PubMed ID: 14615409
Title: Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
PubMed ID: 14615409
PubMed ID: 15622536
Title: Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
PubMed ID: 15622536
DOI: 10.1002/ana.20320
PubMed ID: 15811315
Title: Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
PubMed ID: 15811315
PubMed ID: 17488105
Title: Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data.
PubMed ID: 17488105
DOI: 10.1021/pr0700908
PubMed ID: 18306170
Title: Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.
PubMed ID: 18306170
DOI: 10.1002/humu.20717
PubMed ID: 21697855
Title: Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
PubMed ID: 21697855
DOI: 10.1038/jhg.2011.63
PubMed ID: 24780397
Title: Functional analysis of iPSC-derived myocytes from a patient with carnitine palmitoyltransferase II deficiency.
PubMed ID: 24780397
Sequence Information:
- Length: 658
- Mass: 73777
- Checksum: 6444B75ACD57140F
- Sequence:
MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP RLPIPKLEDT IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV ALDKQNKHTS YISGPWFDMY LSARDSVVLN FNPFMAFNPD PKSEYNDQLT RATNMTVSAI RFLKTLRAGL LEPEVFHLNP AKSDTITFKR LIRFVPSSLS WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA RHLLVLRKGN FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR WFDKSFNLII AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ SQPATTDSTV TVQKLNFELT DALKTGITAA KEKFDATMKT LTIDCVQFQR GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG QTVATYESCS TAAFKHGRTE TIRPASVYTK RCSEAFVREP SRHSAGELQQ MMVECSKYHG QLTKEAAMGQ GFDRHLFALR HLAAAKGIIL PELYLDPAYG QINHNVLSTS TLSSPAVNLG GFAPVVSDGF GVGYAVHDNW IGCNVSSYPG RNAREFLQCV EKALEDMFDA LEGKSIKS
Genular Protein ID: 1419027865
Symbol: A0A1B0GTB8_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 25944712
Title: N-terminome analysis of the human mitochondrial proteome.
PubMed ID: 25944712
Sequence Information:
- Length: 635
- Mass: 71182
- Checksum: 6EA1E31090044BF8
- Sequence:
MVPRLLLRAW PRGPAVGPGA PSRPLSAGSG PGQYLQRSIV PTMHYQDSLP RLPIPKLEDT IRRYLSAQKP LLNDGQFRKT EQFCKSFENG IGKELHEQLV ALDKQNKHTS YISGPWFDMY LSARDSVVLN FNPFMAFNPD PKSEYNDQLT RATNMTVSAI RFLKTLRAGL LEPEVFHLNP AKSDTITFKR LIRFVPSSLS WYGAYLVNAY PLDMSQYFRL FNSTRLPKPS RDELFTDDKA RHLLVLRKGN FYIFDVLDQD GNIVSPSEIQ AHLKYILSDS SPAPEFPLAY LTSENRDIWA ELRQKLMSSG NEESLRKVDS AVFCLCLDDF PIKDLVHLSH NMLHGDGTNR WFDKSFNLII AKDGSTAVHF EHSWGDGVAV LRFFNEVFKD STQTPAVTPQ SQPATTDSTV TVQKLNFELT DALKTGITAA KEKFDATMKT LTIDCVQFQR GGKEFLKKQK LSPDAVAQLA FQMAFLRQYG QTVATYESCS TAAFKHGRTE TIRPASVYTK RCSEAFVREP SRHSAGQGFD RHLFALRHLA AAKGIILPEL YLDPAYGQIN HNVLSTSTLS SPAVNLGGFA PVVSDGFGVG YAVHDNWIGC NVSSYPGRNA REFLQCVEKA LEDMFDALEG KSIKS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.