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…

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…

SMARCA4 gene

The SMARCA4 gene, also known as BRG1 or SMARCA4, is a gene that plays a crucial role in regulating gene expression and…

JAK3 gene

The JAK3 gene is a genetic variant that is related to severe combined immunodeficiency (SCID). SCID is a rare genetic disorder that…

SLC52A3 gene

The SLC52A3 gene, also listed as C20orf54, is responsible for encoding a protein that is necessary for the transport of vitamin B2…

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…

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…