BTBD9 Rabbit Polyclonal Antibody, 50ul Enzyme Activity Assays Mutations in this gene have

Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24)

immediate hypersensitivity

a ubiquitin conjugating enzyme (E2)

lung and trachea

Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis

BTBD9 Rabbit Polyclonal Antibody, 50ul Enzyme Activity Assays Mutations in this gene haveThis locus encodes a BTB POZ domain containing protein. This domain is known to be involved in protein protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described.