PGFRL Polyclonal Antibody, 20ul Monoclonal Antibody Preparation a rare autosomal dominant proximal

a rare autosomal dominant proximal myopathy with early childhood onset

7-transmembrane receptor

Defects in this gene have been linked to infertility

There are two transcripts identified for this gene

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome

PGFRL Polyclonal Antibody, 20ul Monoclonal Antibody Preparation a rare autosomal dominant proximalThis gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non small cell lung cancers. This suggests this gene product may function as a tumor suppressor.