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

KCNV2 encodes a member of the potassium voltage-gated channel subfamily V

unspliced transcript in endothelial cells has been described

PNN (Pinin

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.