TYR gene
The Tyr gene, also known as the tyrosinase gene, is a gene that plays a crucial role in the production of an enzyme called tyrosinase. This enzyme is responsible for the production of melanin, the pigment that gives color to…
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TRNT1 deficiency
TRNT1 deficiency is a rare genetic condition, also known as sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). It is caused by mutations in the TRNT1 gene, which codes for an enzyme involved in the production of…
Phosphoglycerate mutase deficiency
Phosphoglycerate mutase deficiency is a rare genetic condition that is primarily associated with myopathy. It is caused by mutations in the PGAM2 gene, which is responsible for producing the phosphoglycerate mutase enzyme. This enzyme plays a crucial role in energy…
CATSPER2 gene
The CATSPER2 gene, also known as the Cation Channel Sperm Associated 2 gene, is a gene that is of significant interest in the scientific community. It is listed in various genetic databases and is the focus of numerous articles and…
Bartter syndrome
Bartter syndrome is a rare genetic disorder that affects the neonatal and infant population. It is characterized by a group of inherited diseases caused by mutations in different genes. The frequency of this syndrome is estimated to be approximately 1…
Chromosome 10
Chromosome 10 is one of the 23 pairs of chromosomes in humans. It contains thousands of genes that provide instructions for making proteins and other important molecules. Changes in the genes located on chromosome 10 can lead to a variety…
ACTG1 gene
The ACTG1 gene is a protein-coding gene that is involved in the development and functioning of the central nervous system. It plays a crucial role in the formation of γ-actin, one of the two major actin proteins found in cells.…
LMNB1 gene
The LMNB1 gene is an autosomal gene that encodes a protein component of the nuclear lamina. The nuclear lamina is a network of proteins that provides structural support to the nucleus and helps regulate gene expression. LMNB1 is particularly important…
CLN7 disease
CLN7 disease is a rare genetic disorder that belongs to a group of diseases collectively known as neuronal ceroid lipofuscinoses (NCLs). NCLs are a group of severe neurodegenerative disorders characterized by the accumulation of lipopigments within the cells of the…
POLR1D gene
The POLR1D gene is related to the polymerases listed in the OMIM gene catalog. It is a variant gene that plays a crucial role in the synthesis of RNA. Under certain conditions, changes in this gene can lead to various…