Choroideremia
Choroideremia is a rare genetic condition that primarily affects the cells in the retina. It is caused by mutations in the CHM gene, also known as the REP-1 gene. The CHM gene provides instructions for making a protein that is…
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MSX2 gene
The MSX2 gene is listed in the OMIM (Online Mendelian Inheritance in Man) registry and is particularly associated with conditions affecting the bones. It plays a crucial role in the regulation and differentiation of bone cells, leading to the normal…
Spastic paraplegia type 31
Spastic paraplegia type 31 is a rare genetic condition characterized by spasticity and weakness in the legs. It is one of the many types of hereditary spastic paraplegia, a group of diseases that affect the neurons responsible for muscle control…
POGZ gene
The POGZ gene, also known as Placenta and Ovary Zinc Finger protein, is a gene that plays a crucial role in the development and proper functioning of the human body. It was first identified and cataloged in the Online Mendelian…
IL2RG gene
The IL2RG gene, also listed as “interleukin 2 receptor subunit gamma,” is a gene located on the X chromosome. This gene is responsible for encoding the cytokine receptor common gamma chain, which plays a crucial role in regulating the immune…
HLA-B gene
The HLA-B gene is a genetic factor that plays a crucial role in the immune system. It encodes proteins known as human leukocyte antigen (HLA) class I molecules, which are found on the surface of cells. There are many versions,…
SH3BP2 gene
The SH3BP2 gene is a key element in the health and proper functioning of cells. Genes play a crucial role in various biological processes, and this particular gene has been extensively studied and documented. It is listed in several genetic…
Carbamoyl phosphate synthetase I deficiency
Carbamoyl phosphate synthetase I deficiency is a rare genetic condition caused by a deficiency of the enzyme carbamoyl phosphate synthetase I. This enzyme is involved in the urea cycle, a process in the liver that converts harmful ammonia into urea…
HAX1 gene
The HAX1 gene is a genetic variant that is associated with severe congenital neutropenia, a condition characterized by extremely low levels of neutrophils, a type of white blood cell. Neutropenia can lead to frequent and severe bacterial infections, as neutrophils…
NEU1 gene
The NEU1 gene is a gene that encodes the enzyme neuraminidase, also known as sialidase. This enzyme is involved in the breakdown of sialic acid-containing molecules. Mutations in the NEU1 gene are related to a genetic condition known as sialidosis.…