Application:IF
Reactivity: Human,Mouse,Rat (predicted: Rabbit,Pig,Sheep,Cow,Dog,Horse)
MYLPF is a 169 amino acid protein that is expressed in fetal and adult skeletal muscle. A calicum binding protein, MYLPF contains three EF hand domains and is encoded by a gene that maps to human chromosome 16p11.2. Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene.