The KCNJ2 gene is responsible for encoding the protein that forms part of a specific type of ion channel called an inward rectifying potassium channel. This channel plays a vital role in regulating the electrical activity of cells, particularly in…
Pallister-Killian mosaic syndrome, also known as Pallister-Killian syndrome or PKS, is a rare chromosomal condition. It is caused by a mosaic pattern of chromosome changes that occur after fertilization. The syndrome is associated with a distinctive pattern of facial features,…
The LEMD3 gene is a genetic factor that has been associated with various conditions, including Buschke-Ollendorff syndrome and osteopoikilosis. This gene is located in the nucleus of cells and is responsible for producing a protein that reduces bone density. People…
Achondroplasia is a rare genetic condition characterized by short stature and other skeletal abnormalities. It is the most common cause of dwarfism, affecting approximately 1 in 15,000 to 40,000 births worldwide. The condition is inherited in an autosomal dominant manner,…
Rippling muscle disease is a rare genetic neuromuscular condition characterized by muscular rippling contractions that can be triggered by percussion-induced contraction or voluntary movements. It is also known as schoser-genetic muscle disease or caveolopathies. It is associated with mutations in…
Nephrogenic diabetes insipidus (NDI) is a rare genetic condition that is characterized by the inability of the kidneys to concentrate urine, resulting in excessive thirst and urination. It is a form of diabetes insipidus (DI), a disease that affects the…
The HBA1 gene, also known as alpha-1 globin gene, plays a crucial role in the synthesis of alpha chains, a component of hemoglobin. Hemoglobin is responsible for carrying oxygen throughout the body, making it essential for proper bodily functions. This…
Lactose intolerance is a condition that affects the ability to digest lactose, a sugar found in milk and other dairy products. It is caused by a deficiency of an enzyme called lactase, which is needed to break down lactose into…
The PHKB gene, listed under the scientific names phosphorylase kinase, muscle isoform X-linked (MGC 9203, MGC 9221) and MGC9203, is responsible for the production of the phsophorylase kinase beta subunit enzyme. This gene plays a crucial role in glycogen storage…
The RPE65 gene is associated with a condition known as retinitis pigmentosa (RP), which is an autosomal recessive disease that affects the retinal pigment epithelium. RP is a group of inherited eye diseases that cause degeneration of the retina, resulting…