The RASA1 gene is a crucial gene associated with various conditions and diseases, including cancers and malformation-arteriovenous diseases. It plays a significant role in the regulation and control of the Ras-MAPK signaling pathway, which is responsible for cell growth, differentiation,…
The EXOSC3 gene, also known as RRP40, is a gene that encodes a protein called exosome component 3. This protein is part of a complex called the exosome, which is involved in the degradation and processing of RNA molecules. Mutations…
The GRM6 gene is associated with various conditions related to vision and eye health. Mutations in this gene can result in a range of congenital and progressive diseases, including autosomal recessive congenital stationary night blindness (CSNB1A). The GRM6 gene codes…
ALG6-congenital disorder of glycosylation (CDG) is a rare genetic condition that affects the glycosylation process. It is associated with mutations in the ALG6 gene, which is responsible for encoding an enzyme involved in the addition of sugar molecules to proteins.…
Pearson syndrome is a rare genetic disorder that affects children and is associated with bone marrow failure. It was first described in a catalog of diseases and was later named after Dr. Pearson who conducted detailed studies on the condition.…
The ETFA gene, also known as electron-transfer-flavoprotein, alpha-subunit, is responsible for coding a subunit of the electron-transfer-flavoprotein (ETF) complex. This gene is involved in the metabolism of fats and plays a crucial role in various biochemical processes in the body.…
Spastic paraplegia type 7 (SPG7) is a rare genetic condition that causes spastic paraplegia, which is a progressive weakness and stiffness of the muscles in the legs. This condition is associated with mutations in the SPG7 gene, which is responsible…
The MYH11 gene, also known as myosin-11, is responsible for encoding the myosin heavy chain protein found in smooth muscle cells. This gene plays a critical role in the contraction and function of muscles, especially those found in the gastrointestinal…
The SRD5A3-congenital disorder of glycosylation, also known as SRD5A3-CDG, is a rare genetic condition that affects the production of glycosylation. Glycosylation is a process in which sugar molecules are added to proteins and lipids, and it plays a crucial role…
RNase T2-deficient leukoencephalopathy is a rare genetic condition characterized by congenital leukoencephalopathy. It is associated with mutations in the RNASET2 gene, which is also known as the T2-ribonuclease gene. This condition is inherited in an autosomal recessive manner, meaning that…