TBCD1 Rabbit Polyclonal Antibody, 50ul Bottle-Top Dispenser Mutations in this gene are

Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies

Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12)

This gene and interleukin 20 receptor beta are highly expressed in skin

LIFR encodes leukemia inhibitory factor receptor alpha that belongs to the type I cytokine receptor family

orexin A and orexin B

TBCD1 Rabbit Polyclonal Antibody, 50ul Bottle-Top Dispenser Mutations in this gene areTBC1D1 is the founding member of a family of proteins sharing a 180 to 200 amino acid TBC domain presumed to have a role in regulating cell growth and differentiation. These proteins share significant homology with TRE2 (USP6; MIM 604334) yeast Bub2 and CDC16 (MIM 603461) (White et al. 2000