NEFERT

NEFERT is a gene that is found in humans. It is also known as Nephrosis 2, Idiopathic, Steroid-Resistant (NPHS2). This gene provides instructions for making a protein called podocin, which is found in the kidneys, specifically in cells called podocytes. Podocytes are necessary for the normal function of the kidneys, and mutations in the NEFERT gene can lead to kidney disease.

Function

The NEFERT gene provides instructions for making a protein called podocin. This protein is found in the kidneys, specifically in cells called podocytes. Podocytes are necessary for the normal function of the kidneys. They form a part of the kidney's filtration system, helping to filter waste products from the blood.

Clinical significance

Mutations in the NEFERT gene can lead to kidney disease. Specifically, these mutations can cause a condition called nephrotic syndrome. This is a kidney disorder that causes the body to excrete too much protein in the urine. Nephrotic syndrome can lead to swelling in the body and a range of other symptoms.

Genetics

The NEFERT gene is located on the short (p) arm of chromosome 1 at position 25. More precisely, the NEFERT gene is located from base pair 119,615,663 to base pair 119,618,632 on chromosome 1.

See also

• Nephrotic syndrome
• Podocyte
• Chromosome 1

References

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External links

• NEFERT at NCBI
• NEFERT at Genetics Home Reference

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