ALMS1P
Description
The ALMS1 gene is responsible for encoding a protein crucial for the formation and function of cilia, tiny hair-like structures found on the surface of many cells. These cilia play vital roles in sensory perception, cell signaling, and fluid movement within the body. Mutations in ALMS1 can disrupt ciliary function, leading to a spectrum of developmental and health problems. Understanding the role of ALMS1 in ciliary biology is essential for developing effective treatments and therapies for associated disorders.
Associated Diseases
Did you know?
ALMS1 gene mutations are linked to a rare, autosomal recessive disorder called Alstrom syndrome. This condition is characterized by a wide range of symptoms, including obesity, diabetes, visual impairment, hearing loss, and kidney disease.
