CLN6 gene
The CLN6 gene provides instructions for a protein involved in cellular transport, with mutations linked to CLN6 disease, a condition characterized by progressive motor and intellectual decline.
Normal Function
The CLN6 gene provides instructions for a protein whose function is not well understood. The CLN6 protein is found in the endoplasmic reticulum, a structure involved in protein processing and transport. Research suggests that the CLN6 protein regulates the transportation of certain proteins and fats from the endoplasmic reticulum to lysosomes, helping cells dispose of materials they no longer need.
Health Conditions Related to Genetic Changes
CLN6 disease
More than 70 mutations in the CLN6 gene have been found to cause CLN6 disease. This condition impairs motor and mental development, typically starting in early to late childhood, though some cases do not appear until adulthood.
Most CLN6 gene mutations result in the production of an abnormal protein that is quickly degraded, leading to a severe reduction in functional protein. In adult-onset cases, mutations often change single amino acids, resulting in a protein with reduced function that allows enough activity to delay the onset of symptoms.
CLN6 disease is characterized by the accumulation of proteins, peptides, and other substances in lysosomes. These accumulations occur throughout the body, but nerve cells are particularly vulnerable. The progressive death of these nerve cells leads to the movement and intellectual problems associated with the disorder.