Spastic paraplegia type 7 (SPG7) is a rare genetic condition that causes spastic paraplegia, which is a progressive weakness and stiffness of the muscles in the legs. This condition is associated with mutations in the SPG7 gene, which is responsible…
The ETFA gene, also known as electron-transfer-flavoprotein, alpha-subunit, is responsible for coding a subunit of the electron-transfer-flavoprotein (ETF) complex. This gene is involved in the metabolism of fats and plays a crucial role in various biochemical processes in the body.…
The SRD5A3-congenital disorder of glycosylation, also known as SRD5A3-CDG, is a rare genetic condition that affects the production of glycosylation. Glycosylation is a process in which sugar molecules are added to proteins and lipids, and it plays a crucial role…
The MYH11 gene, also known as myosin-11, is responsible for encoding the myosin heavy chain protein found in smooth muscle cells. This gene plays a critical role in the contraction and function of muscles, especially those found in the gastrointestinal…
RNase T2-deficient leukoencephalopathy is a rare genetic condition characterized by congenital leukoencephalopathy. It is associated with mutations in the RNASET2 gene, which is also known as the T2-ribonuclease gene. This condition is inherited in an autosomal recessive manner, meaning that…
The CNGA3 gene is a scientific resource that provides important information on genetic disorders related to phototransduction in the retina. This gene is also known as CNG3 and is a member of the alpha subunit of the cone photoreceptor cGMP-gated…
Griscelli syndrome is a rare genetic condition that is characterized by hypopigmentation, or decreased coloring, of the hair, skin, and eyes. It is caused by mutations in one of three genes: MYO5A, RAB27A, and MLPH. These genes are involved in…
The MKKS gene, also known as the mckusick-kaufman syndrome gene, provides instructions for making proteins that are involved in the development and function of various tissues and organs in the body. Although the specific functions of these proteins are not…
17q12 duplication is a chromosomal condition that causes extra genetic material to be copied onto chromosome 17. This condition is associated with a variety of clinical features and can affect individuals in different ways. The frequency of this duplication in…
3-M syndrome, also known as Three M syndrome, is a rare genetic condition that affects growth and development. The name “3-M” refers to the three main signs of the syndrome: Short stature (including shortened arms and legs) Prominent round face…