C16orf13
c16orf13: Gene Profile, Associated Diseases, and Advanced Research
Description
c16orf13, also known as chromosome 16 open reading frame 13, is a protein-coding gene located on chromosome 16 in humans. The gene encodes a protein of 144 amino acids with a predicted molecular weight of approximately 16 kDa. c16orf13 is highly conserved across species, with orthologs found in vertebrates, invertebrates, and even plants. The protein is predicted to be localized to the cytoplasm and may play a role in cellular processes such as transcription and RNA processing.
Associated Diseases
Variants in the c16orf13 gene have been linked to the development of several rare genetic disorders, including:
- Schimke immuno-osseous dysplasia (SIOD): A multi-system disorder characterized by short stature, immunodeficiency, and bone abnormalities.
- Growth retardation with anhydrosis and seizures (GRAS): A rare condition causing severe growth delay, seizures, and the absence of sweat glands.
- Microcephalic primordial dwarfism (MPD): A rare form of dwarfism associated with microcephaly and growth retardation.
- Sheldon-Hall syndrome (SHS): A disorder characterized by short stature, skeletal anomalies, and impaired intellectual development.
Did you Know ?
Approximately 1 in every 25,000 individuals is estimated to carry a mutation in the c16orf13 gene. However, the prevalence of associated disorders varies widely, with SIOD being the most common at around 1 in 1 million births.
