The HARS2 gene encodes for a protein called histidyl-tRNA synthetase 2. This gene is involved in the process of protein synthesis, specifically in attaching the amino acid histidine to its corresponding transfer RNA molecule. Changes or mutations in the HARS2…
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…
Crouzon syndrome is a rare genetic condition characterized by craniosynostosis, which is the premature fusion of the skull bones. This fusion can cause various craniofacial abnormalities, such as a flat face, bulging eyes, and a beaked nose. It is also…
The TWIST1 gene, also known as twist-related protein 1, is a catalog of genetic and functional information related to various diseases. This gene has been found to be associated with several genetic disorders and syndromes, including Saethre-Chotzen syndrome. In addition,…
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,…
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…
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 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…
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 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…