S6A19 Polyclonal Antibody, 20ul Cryopreservation Different polymorphic forms

Different polymorphic forms

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

DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations)

Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix

Its expression is down-regulated in many cell lines

S6A19 Polyclonal Antibody, 20ul Cryopreservation Different polymorphic formsThis 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.