SYCM Rabbit Polyclonal Antibody, 50ul 3D Culture The Schwartz-Jampel syndrome and Charcot-Marie-Tooth

The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1

The encoded protein may be involved in fat oxidation| non-oxidative glucose metabolism| and the regulation of energy expenditure

a region associated with Cornelia de Lange syndrome

The precise function of PARK2 is unknown

is a recessive genetic disorder that results from defects in this gene

SYCM Rabbit Polyclonal Antibody, 50ul 3D Culture The Schwartz-Jampel syndrome and Charcot-Marie-ToothThis gene encodes a putative member of the class I family of aminoacyl tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice site mutation in this gene has been associated with a novel progressive