STX16 Rabbit Polyclonal Antibody, 20ul Gene Synthesis Mutations in SLC22A5 (solute carrier

Mutations in SLC22A5 (solute carrier family 22 member 5)are the cause of systemic primary carnitine deficiency (CDSP)

two nonphosphorylatable alkali light chains

via its receptor

Alternatively spliced transcript variants encoding the same protein have been reported

Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity

STX16 Rabbit Polyclonal Antibody, 20ul Gene Synthesis Mutations in SLC22A5 (solute carrierThis gene encodes a protein that is a member of the syntaxin or t SNARE (target SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V SNARES (vesicle SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this