The gene NPHS1 encodes? – Pathology MCQ

The gene NPHS1 encodes?
A. Podocin
B. TRPC6
C. Alpha actinin 4
D. Nephrin

Correct answer : D. Nephrin

Focal segmental glomerulosclerosis (hilar variant) – PAS stain

• NPHS1 was the first gene to be identified as the cause for focal segmental glomerulosclerosis.
• This gene encodes the protein Nephrin, which is an important component of the slit diaphragm.
• NPHS2 gene encodes the protein Podocin.
• Mutations in the gene encoding Alpha actinin 4 is responsible for some cases of autosomal dominant focal segmental glomerulosclerosis.
• Mutations in the gene encoding TRPC6 (Transient Receptor Potential Calcium channel 6) is seen in some cases of adult onset FSGS.

Ref: Robbins & Cotran, Pathologic basis of disease, South Asia edition, Vol 2, p918.
Image credits: Nephron. Licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license. https://en.wikipedia.org/wiki/File:Focal_segmental_glomerulosclerosis_-_high_mag.jpg