Expert

Expert

ST3GAL5 gene

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…

LRP5 gene

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)…

PDHX gene

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…

COL4A4 gene

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…

Waardenburg syndrome

Waardenburg syndrome is a rare genetic condition that affects the pigmentation of the hair and eyes, as well as hearing. It is caused by changes in several genes, with the associated genetic variants cataloged in resources such as OMIM and…

RPS17 gene

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…

Craniometaphyseal dysplasia

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…

FA2H gene

The FA2H gene, also known as fatty acid 2-hydroxylase, is a genetic gene that codes for the production of an enzyme called FA2H. This enzyme plays a crucial role in the formation of fatty acids, particularly 2-hydroxylated fatty acids, which…

Carnitine palmitoyltransferase II deficiency

Carnitine palmitoyltransferase II deficiency, also known as CPT II deficiency or CPT2 deficiency, is a rare genetic condition that affects the enzyme carnitine palmitoyltransferase II. This enzyme is responsible for transporting long-chain fatty acids into the mitochondria of cells, where…