Alms1, centrosome and basal body associated protein
Alms1 (also known as ALMS Motif-containing 1) is a protein that in humans is encoded by the ALMS1 gene. It is a centrosome and basal body associated protein, playing a crucial role in cellular processes such as cell division and ciliogenesis.
Function[edit | edit source]
Alms1 is a large protein that is localized to the centrosome and basal body, two important cellular organelles involved in cell division and the formation of cilia and flagella, respectively. The exact function of Alms1 is not fully understood, but it is known to be involved in the maintenance of centrosome cohesion and the regulation of ciliary length.
Clinical significance[edit | edit source]
Mutations in the ALMS1 gene are associated with Alström syndrome, a rare genetic disorder characterized by a wide range of symptoms including vision and hearing loss, obesity, insulin resistance, and heart disease. The role of Alms1 in this syndrome is not fully understood, but it is thought to be related to its function in cilia, which are involved in a wide range of cellular signaling pathways.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- ALMS1 at GeneCards
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Contributors: Prab R. Tumpati, MD
