Category Genetics

COL3A1 gene

The COL3A1 gene is responsible for the production of a protein called collagen type III alpha 1 chain. Collagen is a major component of connective tissues, including the skin, blood vessels, and organs. Mutations in the COL3A1 gene can result…

Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic disorder that is characterized by the development of noncancerous tumors called hamartomas. Although this condition is rare, studies have shown that it is often associated with additional genetic abnormalities and can have a…

Dyskeratosis congenita

Dyskeratosis congenita is a rare genetic disorder associated with physical changes in the body, specifically the telomeres – the protective caps on the ends of chromosomes. This condition affects the function of telomeres, which are responsible for ensuring the stability…

ACP5 gene

The ACP5 gene encodes a protein called tartrate-resistant acid phosphatase 5 (TRAP5A). This gene is primarily active in immune cells and is involved in the regulation of osteoclast activity and bone remodeling. Changes in the ACP5 gene have been associated…

Genetic Conditions

Genetic conditions, also known as genetic disorders or genetic diseases, are caused by abnormalities or mutations in an individual’s DNA. These conditions can affect various parts of the body, including the skin, muscles, bones, and organs. They can manifest in…

What are reduced penetrance and variable expressivity

Reduced penetrance and variable expressivity are two concepts used in genetics to describe how genetic variants can manifest in different ways in different individuals. These concepts are important to understand because they illustrate the complexity of genetic inheritance and can…

CYP19A1 gene

The CYP19A1 gene, also known as aromatase, encodes the enzyme cytochrome P450 19A1. This enzyme is responsible for the conversion of androgens to estrogens in various tissues, including the ovary, placenta, and brain. The gene is expressed in these tissues,…

PML gene

The PML gene, also known as the promyelocytic leukemia gene, is a gene that encodes for a protein involved in the differentiation and apoptosis of cells. It is cataloged in various genetic databases and resources, including OMIM, which is a…

Spondyloepimetaphyseal dysplasia Strudwick type

Spondyloepimetaphyseal dysplasia Strudwick type is a rare genetic condition that affects the growth and development of bones, cartilage, and other connective tissues. The condition is associated with a short stature and abnormalities in the vertebrae and long bones. Individuals with…

Galactosemia

Galactosemia is a rare genetic condition that causes severe symptoms in newborns. It is inherited in a simple autosomal recessive manner, meaning that both parents must carry a defective gene for the condition to occur in their child. The condition…