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 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…
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…
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…
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…
The SMCHD1 gene is a key gene involved in various genetic diseases and abnormalities. It has been cataloged and studied extensively in the scientific community. One of the conditions associated with mutations in the SMCHD1 gene is microphthalmia, which is…
PROP1 gene, also known as prophet of Pit1, is a genetic variant that plays a crucial role in the differentiation and development of pituitary hormones. This gene helps control the production of hormones related to growth and development as well…
The HNF4A gene, also known as HNF4alpha, is a gene that provides instructions for making a protein called hepatocyte nuclear factor 4-alpha. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps…
The LRP2 gene, also known as the low-density lipoprotein receptor-related protein 2 gene, is an important gene associated with various health conditions. It is listed in various genetic databases and registries, and has been the subject of numerous scientific articles…
The POLH gene, also known as rad30, is a central gene involved in DNA repair. It is listed in various genetic databases and is associated with a variant of the xeroderma pigmentosum disease, known as XP-V. XP-V is characterized by…