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FLASH GENE

Symbol

CPT1B

contributors: mct - updated : 28-01-2011

HGNC name	carnitine palmitoyltransferase 1B (muscle)
HGNC id	2329

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high-fat diet-induced insulin resistance

Susceptibility

to narcolepsy to skeletal muscle fat infiltration in Afro-Caribbean men

Variant & Polymorphism SNP , other	associated with narcolepsy
	association between common nonsynonymous coding variants in CPT1B and ectopic skeletal muscle fat among middle-aged and older African ancestry men

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete     potential targets for the treatment of metabolic disorders, including diabetes and coronary heart disease cardiovascular atheroma cardiac potential targets for the treatment of metabolic disorders, including diabetes and coronary heart disease

ANIMAL & CELL MODELS

lethality of homozygous CPT-1b deficiency in the mice is consistent with paucity of human cases