ABCB8 Polyclonal Antibody, 20ul Micro Centrifuge Tubes Mutations in this gene cause

Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen)

|PTM:Polyubiquitination seems to allow p105 processing

|PTM:Phosphorylation on Ser-421 and Ser-423 promotes enzymatic activity and interactions with NuRD and SIN3 complexes

This gene encodes the small subunit of DRB (5

The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus

ABCB8 Polyclonal Antibody, 20ul Micro Centrifuge Tubes Mutations in this gene causeThis nuclear gene encodes a multi pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants.