Expert

The MT-ND4L gene is a part of the catalog of human genes and genetic disorders. It also goes by the names NADH-ubiquinone oxidoreductase chain 4L and NADH dehydrogenase subunit 4L. This gene is related to the optic nerve and optic…

The PTPN11 gene is related to other genes listed in scientific articles and written databases. It is typically positioned at a normal multiple locations in the central cells. This gene is involved in the protein-tyrosine signaling pathway and is associated…

19p1313 deletion syndrome is a rare genetic condition that affects the development and inheritance of genes on chromosome 19. This syndrome usually causes a range of physical and cognitive symptoms, including intellectual disability, delayed development, and distinctive facial features. The…

A chromosome is a thread-like structure composed of DNA and proteins found in the nucleus of cells. It serves as the vehicle for storing genetic information within the cell. Each chromosome consists of a long DNA molecule tightly coiled around…

Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder characterized by a triad of symptoms: eczema, recurrent infections, and thrombocytopenia (low platelet count). This X-linked recessive syndrome is caused by mutations in the gene called Wiskott-Aldrich syndrome protein (WASP). WAS is…

The KRT1 gene, also known as keratin 1, is a genetic variant that is typically related to skin disorders. This gene is responsible for producing the protein keratin, which is essential for maintaining the health of the skin. Epidermolytic hyperkeratosis,…

Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disease that affects the muscles. It is named after the muscles that are commonly affected – the face (facio), shoulder blades (scapulo), and upper arms (humeral). FSHD is caused by mutations in…

The MECP2 gene, also known as the methyl-CpG-binding protein 2 gene, is involved in many different disorders and conditions. It is a gene that is located on the X chromosome and has been characterized and listed in scientific databases for…

Trichothiodystrophy (TTD) is a rare genetic condition associated with photosensitive skin, poor hair growth, intellectual disability and other clinical features. It is caused by mutations in genes involved in DNA repair and transcription, such as ERCC2 and GTF2H5. TTD has…

The MBD5 gene plays a crucial role in genetic disorders and neurodevelopmental conditions. It encodes for a protein that is part of the methyl-CpG-binding domain family. The MBD5 protein specifically binds to methylated DNA, which is important for gene regulation.…