Gene: CPT1B
Alternate names for this Gene: CPT1-M|CPT1M|CPTI|CPTI-M|M-CPT1|MCCPT1|MCPT1
Gene Summary: The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.33
Description of this Gene: carnitine palmitoyltransferase 1B
Type of Gene: protein-coding
Gene: CHKB-CPT1B
Alternate names for this Gene: CHKL-CPT1B|CPT1-M|CPT1B|CPTI-M
Gene Summary: The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.33
Description of this Gene: CHKB-CPT1B readthrough (NMD candidate)
Type of Gene: ncRNA
Gene: CHKB
Alternate names for this Gene: CHETK|CHKL|CK|CKB|CKEKB|EK|EKB|MDCMC
Gene Summary: Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus.
Gene is located in Chromosome: 22
Location in Chromosome : 22q13.33
Description of this Gene: choline kinase beta
Type of Gene: protein-coding
rs5770917 in
CPT1B;CHKB-CPT1B;CHKB gene and
Narcolepsy
PMID 18820697 2008 We conducted a genome-wide association study using 500K SNP microarrays in 222 Japanese individuals with narcolepsy and 389 Japanese controls, with replication of top hits in 159 Japanese individuals with narcolepsy and 190 Japanese controls, followed by the testing of 424 Koreans, 785 individuals of European descent and 184 African Americans. rs5770917, a SNP located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02).