CCD50 Rabbit Polyclonal Antibody, 20ul Cell Transfection Mutations in this gene have

Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum

This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs

SLC25A12 encodes a calcium-binding mitochondrial carrier protein

Defects in this gene are the cause of hemochromatosis type 2A

and LIN2-like (see CASK

CCD50 Rabbit Polyclonal Antibody, 20ul Cell Transfection Mutations in this gene haveThis gene encodes a soluble, cytoplasmic, tyrosine phosphorylated protein with multiple ubiquitin interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule based structures. This protein may also function as a negative regulator of NF kB signaling and as an