The HMGCL gene, also known as 3-hydroxy-3-methylglutaryl-CoA lyase, is a genetic variant that is associated with a condition called HMG-CoA lyase deficiency. This gene plays a crucial role in the breakdown of leucine, an essential amino acid, and is therefore…
The KRT13 gene is a gene that codes for a protein called keratin 13. This protein is found in the mouth, nose, and other tissues of the body. Mutations in the KRT13 gene can lead to various health conditions, including…
Triazolam Triazolam may increase the risk of serious or life-threatening breathing problems, sedation, or coma if used along with certain medications. Tell your doctor if you are taking or plan to take certain opiate medications for cough such as codeine…
The GJB6 gene is a protein-coding gene involved in various syndromes and diseases. It is also known as connexin 30.3 and is a member of the connexin protein family. Connexins are integral membrane proteins that form gap junction channels, which…
Glucose in urine, also known as glycosuria, is a condition that can indicate several underlying health issues. Normally, glucose is filtered out by the kidneys and reabsorbed back into the bloodstream. However, when there is excess glucose in the blood,…
The SLC34A2 gene, also known as sodium-dependent phosphate cotransporter 2A, is a protein-coding gene that is involved in the transport of phosphate ions across cellular membranes. Mutations in this gene have been linked to pulmonary alveolar microlithiasis (PAM), a rare…
Duchenne and Becker muscular dystrophies are rare genetic conditions that affect the function of the muscles. They are caused by a mutation in the dystrophin gene, which results in the absence or deficiency of the protein dystrophin. Duchenne muscular dystrophy…
The MEGF8 gene is associated with several conditions, including Carpenter syndrome and Multiple Epiphyseal Dysplasia. This gene provides instructions for making a protein involved in the development of various tissues and organs in the body. Mutations in the MEGF8 gene…
The genes in the S family play a crucial role in various biological processes. One of the key genes in this family is chromatin synthase, which is involved in the modification and remodeling of chromatin. Another important gene is alpha-reductase,…
Glycogen storage disease type 0, also known as GSD 0, is a rare genetic disorder characterized by impaired glycogen synthesis in the body. This condition is associated with mutations in the GYS2 gene, which is responsible for the production of…