BFSP1 Rabbit Polyclonal Antibody, 50ul Micro Centrifuge Tubes Defects in TRPS1 are a

Defects in TRPS1 are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III

RAB GTPase Binding Effector Protein 2) is a Protein Coding gene

PNN (Pinin

MIM 601912) is required for numerous biologic processes

This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family

BFSP1 Rabbit Polyclonal Antibody, 50ul Micro Centrifuge Tubes Defects in TRPS1 are aThis gene encodes a lens specific intermediate filament like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile onset cataract. Alternate splicing results in multiple transcript variants.