Spinal Muscular Atrophy (SMA) is a rare genetic disease that affects the muscles. It is caused by a mutation in the SMN1 gene, which is responsible for producing a protein called Survival Motor Neuron (SMN) that is essential for the…
The DDC gene encodes the enzyme Dopa Decarboxylase (DDC), which is responsible for the conversion of L-DOPA to dopamine. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive database of human genes and genetic…
DNMT3A overgrowth syndrome is a genetic condition characterized by overgrowth and intellectual disability. It is caused by mutations in the DNMT3A gene, which codes for the DNA methyltransferase 3 alpha enzyme. This enzyme is involved in the modification of DNA,…
Primary coenzyme Q10 deficiency is a rare genetic condition that affects the body’s ability to produce an essential antioxidant called coenzyme Q10. It is associated with a range of clinical problems, including oxidative damage to cells and tissues. This condition…
The SMOC1 gene, listed under the official symbol “SMOC1” (secreted modular calcium-binding protein 1), is a genet that is associated with several ophthalmo-acromelic conditions. It is also known by other names such as SPARC-related modular calcium-binding protein 1. Mutations in…
The RPL35A gene is one of the genes that play a crucial role in the formation and function of ribosomes, the cellular structures responsible for protein synthesis. Ribosomes are a vital component of all living cells and are involved in…
The TGFBR2 gene, also known as the transforming growth factor beta receptor 2, is a gene that plays a critical role in various biological processes. Mutations in this gene have been linked to a number of conditions, including Loeys-Dietz syndrome,…
X-linked chondrodysplasia punctata 1 is a rare genetic condition that affects the development of bone and cartilage. It is also known as chondrodysplasia punctata, brachytelephalangic, or X-linked chondrodysplasia punctata. This condition is caused by mutations in the gene called the…
The NOP56 gene is typically associated with various health conditions and diseases, particularly spinocerebellar ataxia. It is cataloged in numerous databases and has been found to have variant changes in different types of spinocerebellar ataxia. The gene NOP56 encodes proteins…
The HPSE2 gene, also known as heparanase 2, plays a crucial role in various biological processes related to health and diseases. This gene encodes an enzyme that cleaves heparan sulfate proteoglycans (HSPGs), which are essential components of the extracellular matrix…