NEPRO

Molecular Characteristics for Families

NEPRO is a gene, which encodes a protein NEPRO. The exact function of NEPRO has not been unravelled. However, it is known that the protein NEPRO, interacts with other proteins which are involved in a basic cellular process known as ribosomal biogenesis. A variation in NEPRO gene may cause the NEPRO protein to be abnormal and thus affect ribosomal biogenesis. Any alteration in ribosomal biogenesis can affect the bone growth and skeleton, leading to short stature and other manifestations of this disorder.  Further studies are required to prove the effect of NEPRO on ribosomal biogenesis.