The HSD3B2 gene, also known as 3β-Hydroxysteroid dehydrogenase/Delta 5-Delta 4-isomerase, plays a crucial role in the genetic regulation of aldosterone, the salt-retaining hormone. This gene is associated with a novel variant of 3β-HSD deficiency, which is characterized by changes in…
Miller syndrome is a rare genetic condition with additional names such as Genee-Wiedemann syndrome and Brocas Syndrome. It is characterized by craniofacial defects, including cleft lip and/or cleft palate, as well as abnormalities of the fingers and toes. This condition…
The EIF2B4 gene, also known as eukaryotic translation initiation factor 2B subunit delta (EIF2Bδ), is a gene that plays a crucial role in protein synthesis. It is responsible for producing a protein called eukaryotic translation initiation factor 2B, which regulates…
The HRAS gene is a gene that plays a crucial role in the development and growth of cells in the body. It is part of a family of oncogenes, which are genes that have the potential to cause cancer. Mutations…
The FOXP2 gene is a forkhead box protein P2 gene that plays a crucial role in the development of speech and language. It is located on chromosome 7 and is involved in synaptic function and synaptic transmission. Mutations or changes…
Megacystis-microcolon-intestinal hypoperistalsis syndrome is a rare genetic condition that affects the muscles and movement of the intestines. It is also known as MMIHS for short. This syndrome is usually identified with patients who have blockage or enlargement of the intestines,…
The SF3B4 gene, also known as the splicing factor 3B subunit 4 gene, is a gene that plays a crucial role in the formation of messenger RNA (mRNA). The gene is involved in the splicing process, which is responsible for…
The IFT140 gene provides instructions for making a protein that is important for the development and function of cilia. Cilia are tiny, finger-like projections that stick out from the surface of cells and are involved in various cellular processes. The…
The Genes G are a group of genes that play important roles in various biological processes. One of the well-known genes in this group is beta-galactosidase, which is responsible for breaking down lactose into glucose and galactose. This enzyme is…
Have you ever wondered why some people have blue eyes while others have brown? Or why some individuals are prone to certain diseases while others seem practically immune? The answer lies in our genes. Genes are small sections of our…