The PGM3 gene, also known as phosphoglucomutase 3, is a gene that is involved in glycosylation. It has been extensively studied and researched, with numerous articles published in scientific journals. The gene is listed in several databases, including Pubmed, OMIM,…
The DMD (Duchenne muscular dystrophy) gene is a vital gene that is related to a familial and small cause of muscular dystrophy. It is an x-linked gene that has the ability to cause nerve and cardiomyopathy conditions to anyone who…
The restless legs syndrome (RLS) is a neurological condition that affects the nervous system and causes an irresistible urge to move the legs. It is also known as Willis-Ekbom disease. The symptoms of RLS usually occur during periods of rest…
Rapadilino syndrome is a rare genetic disorder. It is caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein called RECQ helicase-like enzyme. The condition is characterized by growth retardation, skeletal abnormalities, and peculiar thumbs.…
The IGHMBP2 gene encodes a protein called immunoglobulin mu-binding protein 2 (IGHMBP2). This protein plays a crucial role in the survival and development of motor neurons, which are responsible for controlling muscle movement. Mutations in the IGHMBP2 gene can lead…
Vohwinkel syndrome, also known as Vohwinkel syndrome with mutilating keratoderma, is a rare genetic condition characterized by the presence of tight skin on the fingers and toes. The syndrome is inherited in an autosomal dominant pattern, meaning that an affected…
The HJV gene, also known as hemojuvelin gene (HFE2), is a key gene involved in the regulation of iron homeostasis. Mutations in this gene can lead to various hereditary hemochromatosis conditions, characterized by excessive iron accumulation in the body. Juvenile…
The ARMC5 gene, also known as armadillo repeat containing 5, is a gene that encodes a protein involved in the regulation of adrenal gland function. Mutations in the ARMC5 gene have been associated with various conditions, including primary macronodular adrenal…
GRN-related frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative condition characterized by the buildup of abnormal proteins in the brain. It is associated with dementia, which affects the frontotemporal lobes, resulting in changes in behavior, personality, and language abilities. FTLD…
TNNT2 gene The TNNT2 gene, also known as the troponin T2, cardiac type gene, helps in the production of proteins that are crucial for proper contractile function of the heart muscle. Mutations in this gene have been found to be…