The LAMA3 gene is responsible for encoding the alpha-3 subunits of laminin-5, one of the proteins that form the basement membrane in various tissues. Changes in this gene can lead to the development of different conditions, including the laryngo-onycho-cutaneous (LOC)…
Stargardt macular degeneration (SMD) is a rare and progressive genetic disease that affects the central part of the retina, called the macula. It is one of the leading causes of vision loss in children and young adults, and there is…
The ALG1 gene is associated with a disorder called ALG1-congenital disorder of glycosylation (ALG1-CDG). This gene is involved in the production of a protein that is required for the normal functioning of the body. Mutations in the ALG1 gene can…
The HSPG2 gene, also known as perlecan, encodes a proteoglycan that is a major component of the extracellular matrix in various tissues. Mutations in the HSPG2 gene have been associated with several disorders, including Schwartz-Jampel syndrome, Urtizberea chondrodysplasia, and Yamada…
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 PLAGL1 gene, also known as ZAC1, is an important gene involved in various health-related functions. It is located on the pleiomorphic adenoma gene-like 1 (PLAGL1) region on chromosome 6q24. This gene plays a significant role in the regulation of…
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 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…
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 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…