The PRPS1 gene is a variant of the pyrimidine- and purine-related conditions. It is associated with several diseases, including Charcot-Marie-Tooth syndrome, pyrimidine- and purine-related conditions, and others. This gene is responsible for the synthesis of phosphoribosylpyrophosphate (PRPP) synthetase 1, which…
The TPM3 gene, also known as tropomyosin 3, is a scientific discover that plays a crucial role in muscle contraction. It was first identified by Clarke and others in the early 1990s and has since been the subject of numerous…
The SMARCB1 gene, also known as SNF5, is a key gene involved in several genetic syndromes and predisposition to cancer. This gene is part of the SWI/SNF chromatin remodeling complex, which plays a critical role in regulating gene expression. Mutations…
The DARS1 gene is related to the synthesis of aspartyl-tRNA in the brainstem. This gene is listed as a cause for spasticity in the genetic registry. Reduced involvement of DARS1 has been associated with changes in fiber testing and other…
Clouston syndrome, also known as hidrotic ectodermal dysplasia, is a rare genetic condition that affects the development of the skin, hair, nails, and glands. It is caused by mutations in the GJB6 gene. This syndrome is inherited in an autosomal…
GM2-gangliosidosis AB variant is a rare genetic condition that affects the nervous system. It is also known as GM2-gangliosidosis type AB. The condition is caused by mutations in the GM2A gene, which provides instructions for making an enzyme called beta-hexosaminidase…
3q29 microduplication syndrome is a rare chromosomal condition caused by a copy number variation, specifically a microduplication of a small piece of chromosome 3q29. This syndrome is associated with a range of physical and developmental features, although the severity can…
The NOTCH3 gene is one of the genes responsible for various conditions associated with the notch signaling pathway. NOTCH3 is the specific gene that encodes the notch receptor 3 protein. This gene is an autosomal dominant gene, which means that…
The HSD17B4 gene, also known as D-Bifunctional Protein (DBP) Deficiency gene, is a genetic condition that is listed in the OMIM database. This gene is responsible for the production of an enzyme called D-bifunctional protein, which plays a crucial role…
The ZMYM2 gene, also known as cowell, is a variant of the mym-type genes. It encodes proteins that play a role in growth and development, and is associated with various genetic conditions and diseases. Several names for this gene have…