Article
A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse.
Biochemical and biophysical research communications - 27 Nov 1998
Lu K m, Nishimori H, Nakamura Y, Shima K, Kuwajima M
Abstract excerpt
Carnitine is an essential cofactor for the mitochondrial beta-oxidation of long-chain fatty acids. The juvenile visceral steatosis (JVS) mouse, an animal model of systemic carnitine deficiency, is inherited in an autosomal recessive manner. Recently, a human OCTN2 gene encoding a sodium-dependent...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Carnitine
- Carrier Proteins
- DNA, Complementary
- Disease Models, Animal
- Humans
- Membrane Proteins
- Mice
- Mice, Inbred C3H
- Mice, Mutant Strains
- Molecular Sequence Data
- Mutation, Missense
- Organic Cation Transport Proteins
- Phenotype
- Sequence Alignment
- Solute Carrier Family 22 Member 5