The SLC5A1 gene, also known as the SGLT1 gene, is responsible for producing a protein called sodium glucose cotransporter 1 (SGLT1). This protein plays a crucial role in the absorption of glucose and galactose from the intestine. Mutations or changes…
1q211 microdeletion is a rare genetic condition that involves the deletion of a small piece of genetic material on chromosome 1. This condition has been the focus of a number of studies and research articles, with information about it available…
Direct-to-consumer genetic testing has become increasingly popular in recent years as more and more people are curious about their ancestral roots and potential health risks. These tests, which can be ordered online and completed at home, offer individuals the opportunity…
The TSHR gene, also known as the thyroid-stimulating hormone receptor gene, plays a critical role in the regulation of thyroid function and metabolism. Mutations in this gene can lead to a variety of thyroid-related disorders, including toxic nodules, thyroid tumors,…
The CYP24A1 gene is a central player in the regulation of calcium levels in the body. It encodes for the cytochrome P450 enzyme that converts the active form of vitamin D, known as calcitriol, into its inactive form. This process…
The SYNE1 gene is associated with several genetic conditions, including autosomal recessive cerebellar ataxia type 1 and Emery-Dreifuss muscular dystrophy. This gene is listed in various genetic databases and resources, providing valuable information and testing options for individuals and families…
Familial atrial fibrillation is a condition in which multiple members of a family have atrial fibrillation, a type of abnormal heart rhythm. Atrial fibrillation is associated with a rapid and irregular heartbeat, which can lead to various symptoms and complications.…
The ADSL gene, which encodes adenylosuccinate lyase, is responsible for a deficiency in the enzyme adenylosuccinate lyase. This gene is associated with various genetic diseases and conditions, including adenylosuccinate lyase deficiency. Mutations and changes in the ADSL gene can affect…
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as PLOSL or Nasu-Hakola disease, is a rare genetic condition that affects the bones and the brain. It is typically characterized by the formation of cyst-like structures in the bones, leading to…
Spinocerebellar ataxia type 3, also known as SCA3, is a rare genetic condition that affects the cerebellum and spinal cord. The disease is caused by a mutation in the ATXN3 gene and is inherited in an autosomal dominant pattern. The…