LOC100505841
Description
Loc100505841 is a gene located on chromosome 10 in humans. It encodes a protein known as FAM111B (family with sequence similarity 111, member B). FAM111B is a transmembrane protein that plays a vital role in the intracellular trafficking and regulation of sphingolipids, which are essential components of cell membranes.
Associated Diseases
Mutations in the loc100505841 gene have been linked to several human diseases, including:
- Niemann-Pick Type C2 Disease (NPC2): This rare genetic disorder is caused by mutations in the loc100505841 gene that result in a deficiency of the NPC2 protein. NPC2 is essential for the transport of cholesterol and other lipids out of lysosomes, cellular organelles involved in waste disposal. Without functional NPC2, cholesterol accumulates in lysosomes, leading to damage and dysfunction of various organs and tissues.
- Infantile Progressive Supranuclear Palsy (IPSP): This neurodegenerative disease predominantly affects children and is associated with mutations in the loc100505841 gene. IPSP causes progressive deterioration of the brain and nervous system, leading to symptoms such as muscle weakness, speech and swallowing difficulties, and cognitive decline.
- Later-Onset Neurodegenerative Disorder (LOND): This condition is caused by rare inherited mutations in the loc100505841 gene. LOND typically manifests in adulthood and is characterized by a combination of neurological symptoms, including movement disorders, psychiatric disturbances, and cognitive impairments.
- Parkinson's Disease and Alzheimer's Disease: Recent research suggests that mutations in the loc100505841 gene may also be associated with an increased risk of developing Parkinson's disease and Alzheimer's disease. However, further studies are needed to confirm these findings.
Did you Know ?
- Mutations in the loc100505841 gene account for approximately 60% of cases of Niemann-Pick Type C2 Disease.
