The FOXL2 gene is a crucial gene involved in the development and functioning of hormone-producing tissues, such as the ovaries. It has been extensively studied and its importance in various health conditions has been well-documented. Research published on PubMed and…
The GP1BB gene, also known as glycoprotein Ib subunit beta, is a gene that codes for a protein called platelet glycoprotein Ib-beta. This protein is involved in the formation of blood clots and is primarily found on platelets. Mutations in…
The SCN4A gene, located on chromosome 17q23.3, is related to a spectrum of clinical conditions, including myotonia, periodic paralysis, sodium channelopathies, and myasthenic syndromes. This gene encodes a sodium channel that is crucial for the function of skeletal muscles. Mutations…
The RAPSN gene, also known as receptor-associated protein of the synapse gene, codes for a protein that plays a crucial role in the formation and maintenance of the neuromuscular junction. Mutations in this gene can lead to various genetic diseases…
Lateral meningocele syndrome (LMS) is a rare genetic disorder characterized by the presence of abnormal outgrowths called meningoceles along the spinal cord. These protrusions occur laterally, or to the side, of the normal neural tube development. LMS is also known…
49XXXXY syndrome is a rare genetic disorder that affects the chromosomes, specifically the X and Y chromosomes. This condition is also known as XXXXY syndrome. It is characterized by the presence of additional X and Y chromosomes in affected individuals.…
Polymicrogyria is a rare brain disorder characterized by abnormal development and organization of the brain’s surface. It is the result of abnormal migration of neurons during the early stages of fetal brain development. Scientific studies have shown that polymicrogyria can…
The JAG1 gene is a scientific term used to refer to the jagged1 gene. This gene is a critical component within the Notch signaling pathway, which plays a significant role in various biological processes. Mutations in the JAG1 gene have…
HIVEP2-related intellectual disability is a rare condition that affects the neurological development and causes intellectual disability. It is named after the HIVEP2 gene, which is involved in the transcription of other genes during developmental processes. Studies have found that mutations…
The SDHC gene encodes a subunit of the succinate dehydrogenase (SDH) enzyme complex, involved in the Krebs cycle, also known as the citric acid cycle. This gene is located on chromosome 1q21 and is part of the SDH gene family,…