Nephrocystin-4 is a
protein that in humans is encoded by the NPHP4gene.[5][6][7]
This gene encodes a protein which contains a
proline-rich region. The encoded protein may function in
renal tubular development and function.
This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative
transcript variants have been described but their full-length nature has not been determined.[7]
Mollet G, Salomon R, Gribouval O, et al. (2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". Nat. Genet. 32 (2): 300–5.
doi:
10.1038/ng996.
PMID12244321.
S2CID24216974.
Mistry K, Ireland JH, Ng RC, et al. (2007). "Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis". Am. J. Kidney Dis. 50 (5): 855–64.
doi:
10.1053/j.ajkd.2007.08.009.
PMID17954299.
Nephrocystin-4 is a
protein that in humans is encoded by the NPHP4gene.[5][6][7]
This gene encodes a protein which contains a
proline-rich region. The encoded protein may function in
renal tubular development and function.
This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative
transcript variants have been described but their full-length nature has not been determined.[7]
Mollet G, Salomon R, Gribouval O, et al. (2002). "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin". Nat. Genet. 32 (2): 300–5.
doi:
10.1038/ng996.
PMID12244321.
S2CID24216974.
Mistry K, Ireland JH, Ng RC, et al. (2007). "Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis". Am. J. Kidney Dis. 50 (5): 855–64.
doi:
10.1053/j.ajkd.2007.08.009.
PMID17954299.