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…
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…
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,…
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…
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…
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…
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…
The CHRNE gene, also known as cholinergic receptor nicotinic epsilon subunit, is a gene that is responsible for encoding a protein involved in the formation of a subtype of cholinergic receptors. Cholinergic receptors are found at nerve endings and are…
Mitochondrial complex III deficiency, also known as the deficiency of cytochrome bc1 complex, is a rare genetic condition that affects the function of the mitochondrial complex III, an essential component of the mitochondrial respiratory chain. This condition is caused by…
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…