ATP11AUN
Description
The ATP11AUN (ATP11A upstream neighbor lncRNA) is a ncRNA gene located on chromosome 13.
ATP11AUN is a gene that encodes a protein involved in the transport of calcium ions across cell membranes. It is primarily localized to the Golgi apparatus and endoplasmic reticulum. Mutations in ATP11AUN can lead to autosomal recessive cerebellar ataxia type 16, a rare disorder characterized by progressive cerebellar degeneration and ataxia.
ATP11AUN encodes a protein that is a member of the P-type ATPase family, which is a group of transmembrane proteins that use the energy of ATP hydrolysis to transport ions across cell membranes. The protein is primarily localized to the Golgi apparatus and endoplasmic reticulum, where it is thought to be involved in the transport of calcium ions. Mutations in ATP11AUN have been associated with a rare, autosomal recessive disorder called "autosomal recessive cerebellar ataxia type 16", which is characterized by progressive cerebellar degeneration and ataxia. This gene is also thought to play a role in the development and function of the central nervous system.
ATP11AUN is also known as C13orf35, SMABLO1.
