TRAPPC6A Polyclonal Antibody, 100ul Miscellaneous Mutations in this gene cause

Mutations in this gene cause nephronophthisis (NPHP)| an autosomal recessive kidney disease characterized by tubular basement membrane disruption| interstitial lymphohistiocytic cell infiltration| and development of cysts at the corticomedullary border of the kidneys

Based on their distribution patterns| some members of this DEAD box protein family are believed to be involved in embryogenesis| spermatogenesis| and cellular growth and division

NTRK1 encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family

The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts

This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory| neuronal differentiation and migration| neurite outgrowth| and synapse formation

TRAPPC6A Polyclonal Antibody, 100ul Miscellaneous Mutations in this gene causeTRAPPC6A (trafficking protein particle complex 6A) encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for TRAPPC6A.