SPEG Polyclonal Antibody, 20ul Organelle Studies frontometaphyseal dysplasia (FMD)

frontometaphyseal dysplasia (FMD)

Alterations of this gene| including point mutations| insertions and deletions| cause factor IX deficiency| which is a recessive X-linked disorder| also called hemophilia B or Christmas disease

G protein-coupled receptors (GPRs)

May be involved in neuronal differentiation

The enzyme may be involved in several physiological processes including cell contraction

SPEG Polyclonal Antibody, 20ul Organelle Studies frontometaphyseal dysplasia (FMD)This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5.