Gene NPHP1 encodes?
Correct Answer: Nephrocystin
Description: Ans. is 'b' i.e., Nephrocystin * Nephrocystin-1 is a protein that in humans is encoded by the NPHP1 gene on chromosome 2q. The protein is known to play a role in functioning of cilia. Mutations in this gene cause familial juvenile nephronophthisis, a medullary cystic kidney disease. It is a form of ciliopathy.* Other genes of this family , NPHP 2,3,4 encode for proteins inversin, Nephrocystin-3 and Nephrocystin-4 respectivelyAbout other options* PKHD1 (Polycystic Kidney and Hepatic Disease 1) which codes for a protein fibrocystin* PKD (adult polycystic kidney) gene on chromosome 16 encoding for polycystin.* NPHS-2 gene (lq25-31) enodes for Podocin (Slit diaphragm Steroid resistant nephrotic syndrome).
Category:
Pathology
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