AKT3 gene
The AKT3 gene is an important gene in human health that is involved in various genetic disorders and syndromes. It is a part of the AKT family of genes, known as AKT1, AKT2, and AKT3, which play critical roles in…
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RSPO2 gene
The RSPO2 gene, also known as r-spondin-2, is a genetic variant that is related to certain conditions and diseases. It has been found to be overexpressed in certain cancers and plays a role in signaling changes in cells. RSPO2 is…
Ataxia with oculomotor apraxia
Ataxia with oculomotor apraxia is a rare genetic condition characterized by the impairment of coordination and balance, as well as the inability to control eye movements (oculomotor apraxia). It is thought to be caused by mutations in certain genes, such…
Type A insulin resistance syndrome
Type A insulin resistance syndrome is a genetic disorder characterized by insulin resistance, which is the inability of the body’s tissues to respond properly to insulin. Insulin is a hormone that helps regulate glucose (sugar) levels in the bloodstream. In…
Epidermal nevus
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…
Cleidocranial dysplasia
Cleidocranial dysplasia is a rare genetic disorder characterized by abnormal development of the bones and teeth. It affects both males and females, with the frequency of occurrence estimated to be between 1 in 100,000 and 1 in 1,000,000 individuals worldwide.…
RUNX1T1 gene
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…
Glycogen storage disease type I
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…
PEX7 gene
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…
TCN2 gene
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…