CRPPA gene The CRPPA gene is a variant of the genet that is related to several scientific conditions, including muscular dystrophy and limb-girdle muscular dystrophy. Mutations in this gene are known to cause additional conditions, including the Walker-Warburg syndrome. Testing…
The SI gene encodes the enzyme sucrase-isomaltase, which is responsible for breaking down the disaccharides sucrose and isomaltose into simpler sugars. These changes in gene result in congenital sucrose-isomaltase deficiency, a rare genetic disorder that affects the normal function of…
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…
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…
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…