TPP1 gene
The TPP1 gene is responsible for the production of an enzyme known as tripeptidyl-peptidase 1. This gene is located on chromosome 11 and is inherited in a recessive manner. Mutations in the TPP1 gene can lead to a group of…
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Parkinson’s disease
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the loss of dopamine-producing cells in the brain. It affects movement and often presents with tremor, stiffness, and difficulty with balance. PD is a chronic and progressive condition, for which there…
Lactate Dehydrogenase LDH Isoenzymes Test
The Lactate Dehydrogenase (LDH) isoenzymes test is a commonly used diagnostic tool to assess and monitor various medical conditions. LDH is an enzyme found in the body’s cells, with the highest levels in the heart, liver, muscles, and kidneys. When…
SMARCA4 gene
The SMARCA4 gene, also known as BRG1 or SMARCA4, is a gene that plays a crucial role in regulating gene expression and controlling various cellular processes. This gene has been found to be associated with several genetic conditions, including Coffin-Siris…
JAK3 gene
The JAK3 gene is a genetic variant that is related to severe combined immunodeficiency (SCID). SCID is a rare genetic disorder that is characterized by a deficiency in the immune system, making individuals highly susceptible to infections. The JAK3 gene…
SLC52A3 gene
The SLC52A3 gene, also listed as C20orf54, is responsible for encoding a protein that is necessary for the transport of vitamin B2 (riboflavin) into cells. This gene is involved in several important physiological reactions, including the production of coenzymes that…
Pink Spotting Before Period
Many women experience changes in their menstrual cycle, and one common occurrence is pink spotting before the start of their period. This light pink discharge can leave women wondering what it means and whether it is normal. Understanding what pink…
DEPDC5 gene
The DEPDC5 gene, also known as the Disheveled, Egl-10, and Pleckstrin domain-containing protein 5 gene, is a gene that has been found to be associated with various genetic disorders. One of the main areas of focus regarding this gene is…
Cerebro-facio-thoracic dysplasia
Cerebro-facio-thoracic dysplasia (CFTD) is a rare genetic condition that affects the development of the brain, face, and chest. It is also known as cerebrofaciothoracic dysplasia. Individuals with CFTD have a range of physical and intellectual disabilities. The exact cause of…
Fumarase deficiency
Fumarase deficiency is a rare genetic condition that affects the body’s ability to convert fumarate to malate in the citric acid cycle. This impairment leads to a buildup of fumaric acid in the body, which can cause a range of…