S6A19 Polyclonal Antibody, 20ul Cryopreservation Mutations in this gene have

Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly

a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents

Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome

Its expression is down-regulated in many cell lines

Different polymorphic forms

S6A19 Polyclonal Antibody, 20ul Cryopreservation Mutations in this gene haveThis gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder.