RSPH1 Polyclonal Antibody, 50ul Custom Peptide Synthesis and GP9 have been shown

and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200)

The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores

The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family

It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes

it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration

RSPH1 Polyclonal Antibody, 50ul Custom Peptide Synthesis and GP9 have been shownThis gene encodes a male meiotic metaphase chromosome associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia 24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.