Category Genetics

The TAP2 gene is a genetic gene that encodes a protein involved in the processing and recognition of other genes. The TAP2 gene is listed in various genetic databases and resources, including OMIM and PubMed, for its role in various…

The BSND gene, also known as barttin, plays a crucial role in the function of the chloride channels CLC-Kb and CLC-Ka. These channels are responsible for the reabsorption of chloride ions in the kidneys, a process essential for maintaining electrolyte…

The COL6A1 gene is one of the genes that codes for collagen, a protein found in the extracellular matrix. Collagens are a family of proteins that provide strength and support to various tissues in the body, including skin, bones, and…

The MATN3 gene is involved in the production of a protein called matrilin-3, which plays a crucial role in the formation and maintenance of the extracellular matrix in various tissues, including bone and cartilage. Changes (mutations) in the MATN3 gene…

The STAT1 gene is an essential component of the immune system, playing a crucial role in the body’s defense against various infectious diseases and pathogens. It is involved in a wide range of biological pathways, including the communication between cells…

The CYP4V2 gene is a member of the cytochrome P450 family of genes. It is located on chromosome 4 and is responsible for encoding an enzyme that plays a crucial role in the metabolism of various substances in the body.…

Genes are the basic units of heredity. They are segments of DNA that contain the instructions for building and maintaining an organism. Genes code for proteins, which are essential for the structure and function of cells and tissues. There are…

EMG1 gene, also known as Essential for Mitochondrial Genome Maintenance 1, is a gene that codes for a protein essential for the proper functioning of ribosomes. Ribosomes are cellular structures that play a crucial role in protein synthesis. Any changes…

The ATP2A1 gene is a gene that is associated with the development of a specific muscle disorder called Brody myopathy. This gene provides instructions for making a protein called sarco(endo)plasmic reticulum calcium ATPase 1 (SERCA1). This protein is responsible for…

The MAPT gene, also known as the tau gene, is a protein-coding gene that is located within the clumps of abnormal tau protein observed in various neurodegenerative diseases. Mutations in this gene can lead to changes in the function and…