Anti-Nephrocystin-8 (NPHP8 or MKS5 or RPGRIP1L) (human) antibody is recommended for immunofluorescence labeling, IHC, or western blot of materials from human tissues.
Nephrocystin-8 (NPHP8) is encoded by the RPGRIP1L gene in human. Nephrocystin-8 is also known as MKS5 or JBTS7. Nephrocystin-8 is considered as a primary cilium protein.
Mutations in nephrocystin-8 cause Meckel syndrome 5 (OMIM 611561) or Joubert syndrome 7 (OMIM 611560), which is characterized by anencephaly, occipital encephalocele, postaxial polydactyly, cleft lip and palate, microphthalmia, severe cystic kidney disease, and hepatic bile duct proliferation, and bowing of the long bones.
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