Epidermal nevus is a rare genetic condition characterized by the overgrowth of cells in the epidermis, the outermost layer of the skin. It is also known as an epidermal nevus syndrome or EN. This condition can present in several different…
Glycogen storage disease type I (GSDI), also known as glycogen storage disease type Ia (GSDIa) or von Gierke disease, is a rare genetic disorder characterized by the inability of the body to break down glycogen into glucose. This results in…
The RUNX1T1 gene, also known as CBFA2T1 or ETO, is located on chromosome 8 and encodes a core-binding factor runt domain transcription factor 1 (CBF-RUNX1T1) protein. This gene plays a crucial role in hematopoiesis and is particularly associated with acute…
The PEX7 gene is a scientific gene that plays a vital role in various fatty acid-related conditions. It is listed in the catalog of genes related to peroxisomes, a cellular organelle involved in important metabolic processes. This gene is responsible…
The MT-ND4L gene is a part of the catalog of human genes and genetic disorders. It also goes by the names NADH-ubiquinone oxidoreductase chain 4L and NADH dehydrogenase subunit 4L. This gene is related to the optic nerve and optic…
The TCN2 gene, also known as transcobalamin 2, is a genetic component involved in the complex process of vitamin B12 transport. It is responsible for the production of the transcobalamin receptor, which plays a crucial role in the uptake and…
19p1313 deletion syndrome is a rare genetic condition that affects the development and inheritance of genes on chromosome 19. This syndrome usually causes a range of physical and cognitive symptoms, including intellectual disability, delayed development, and distinctive facial features. The…
The PTPN11 gene is related to other genes listed in scientific articles and written databases. It is typically positioned at a normal multiple locations in the central cells. This gene is involved in the protein-tyrosine signaling pathway and is associated…
Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder characterized by a triad of symptoms: eczema, recurrent infections, and thrombocytopenia (low platelet count). This X-linked recessive syndrome is caused by mutations in the gene called Wiskott-Aldrich syndrome protein (WASP). WAS is…
A chromosome is a thread-like structure composed of DNA and proteins found in the nucleus of cells. It serves as the vehicle for storing genetic information within the cell. Each chromosome consists of a long DNA molecule tightly coiled around…