Gen MDR1 (ABCB1) kóduje P-glykoprotein, transporter léčiv, který hraje klíčovou roli při rozkládání léků. P-glykoprotein je velmi důležitou složkou hematoencefalické bariéry, která brání vstupu mnoha potenciálně toxických sloučenin do CNS. P-glykoprotein také podporuje vylučování léků do žluče a moči.

Canine Multifocal Retinopathy (CMR) is an inherited eye disease characterized by retinal degeneration. The clinical features are essentially the same as other forms of CMR (1 and 2), but the molecular mechanism is different. In the Lapinporokoira breed, the disease is caused by mutation c.1388del in the BEST1 gene.

Glycogenosis (GSDII - glycogen storage disease type II, Pompe disease) is a lysosomal storage disease that has been reported in closely related Scandinavian dog breeds: Finnish Lapphund and Swedish Lapphund and the Lapponian herder. This disease is characterized by defects in glycogen processing leading to accumulation of glycogen in vacuoles of...

DYSPLASIA OF HIP JOINT (DoHJ*)DoHJ* is one of the most watched and most guarded disease in the breeding of pure-bred dogs. It´s about hereditary conditioned incorrect development of hip joints. In contrast to the same disease at humans we cannot diagnose in dogs hip dysplasia immediately after their birth. That is because the formation of hip joint...

Progressive retinal degeneration of rods and cones (PRA - PRCD) results from mutation of the c.5G> A PRCD gene (earlier designation 1298G> A). The PRCD gene is mainly expressed in the retina, with the same expression in retinal pigment epithelium, photoreceptors and ganglion cell layers. Due to the mutation, the TGC nucleobases are exchanged for...