The KRT12 gene provides instructions for making a protein called keratin 12, which is a member of the cytoskeletal intermediate filament family. Intermediate filaments are structural proteins that help provide strength and resilience to cells. Keratin 12 is specifically found…
The DICER1 gene is an endoribonuclease gene that plays a crucial role in the production of small RNAs, which regulate gene expression. Mutations in the DICER1 gene have been associated with a variety of genetic diseases and conditions, including cystic…
In the field of medical science, new advances and breakthroughs bring forth innovative treatments and technologies that have the potential to revolutionize patient care. One such area of focus is in the realm of genetic therapies, which involve the manipulation…
The STAT3 gene, also known as signal transducer and activator of transcription 3, is an important gene that provides genetic information for the formation and function of proteins. It plays a crucial role in the cellular signaling pathways, regulating various…
Obstructive sleep apnea (OSA) is a common but underdiagnosed condition characterized by repetitive episodes of complete or partial upper airway obstruction during sleep. It is considered a complex multifactorial disorder with both genetic and environmental influences. Studies have shown a…
The PHOX2B gene is a genetic material that plays a crucial role in the development and function of the nervous system, especially in the central and peripheral nervous systems. Changes or variants in this gene have been identified in individuals…
The NOTCH2 gene is a key player in human health and disease. It provides important information for scientific research, diagnostics, and treatment of various conditions. NOTCH2 is part of the NOTCH gene family, which plays a crucial role in cell…
Gyrate atrophy of the choroid and retina is a rare genetic condition that causes progressive degeneration of the retina and the choroid, the tissue layer that provides blood supply to the retina. This condition is inherited in an autosomal recessive…
The CATSPER1 gene, also known as Cation Channel Sperm Associated 1, is a gene that is primarily involved in male infertility. It is listed in various databases and catalogs, including OMIM, PubMed, and the CATSPER1-related articles database. The gene is…
Hartsfield Syndrome, also known as Hartsfield-Bixler-Demyer syndrome, is a rare genetic disorder that is associated with a variety of physical and developmental abnormalities. It is characterized by craniofacial anomalies, including cleft palate and facial dysmorphism, as well as hypogonadism and…