Category Genetics

The NPHS1 gene is responsible for encoding a protein called nephrin, which plays a crucial role in maintaining the health and function of various cells in the renal system. Mutations in the NPHS1 gene can result in a condition known…

Nonsyndromic hearing loss, a genetic disorder associated with changes in the genes involved in hearing function, is a common cause of hearing impairment. It is estimated that about half of the cases of congenital hearing loss and more than half…

The SMAD4 gene, also known as the MADH4 gene, is an important factor in various genetic disorders. It is listed in numerous genetic databases and registries, as it has been found to be associated with several conditions and diseases. The…

The ST3GAL5 gene is responsible for the synthesis of the CMP-NeuAc:LacCer α-2,3-sialyltransferase enzyme, which plays a crucial role in the modification of gangliosides. Gangliosides are a type of glycosphingolipid found in cell membranes, particularly in nerve cells. These complex molecules…

The PDHX gene, also known as pyruvate dehydrogenase complex component X, is a gene that is involved in the production and regulation of energy in cells. This gene is listed in the OMIM database, which is a comprehensive catalog of…

The LRP5 gene, also known as low-density lipoprotein receptor-related protein 5, is a gene that plays a primary role in the formation and development of bone cells. It is one of the key genes associated with familial exudative vitreoretinopathy (FEVR)…

The COL4A4 gene plays a crucial role in the formation of collagen, a protein that provides structure to various tissues in the body. Mutations in this gene have been found to be associated with several disorders, including keratoconus, nephrolithiasis, and…

Spinal Muscular Atrophy with Respiratory Distress Type 1, also known as DSMA1, is an autosomal recessive genetic disorder that typically presents in infancy. This rare condition is caused by mutations in the SMARD1 gene, which leads to a lack of…

Craniometaphyseal dysplasia is a rare genetic disease that affects the bones of the skull and face. It is caused by mutations in the GJA1 gene, which plays a role in the development of bone and cartilage. This condition is associated…

The RPS17 gene is one of the many genes that encode ribosomal proteins. Ribosomes are essential cellular structures that play a central role in protein synthesis. The RPS17 gene provides instructions for producing a protein component of the small ribosomal…