LOC100505530
Loc100505530: A Comprehensive Exploration
Description
Loc100505530 is a human gene located on chromosome 10. It encodes a protein called transmembrane protein 100B (TMEM100B). TMEM100B is involved in various cellular processes, including cell adhesion, migration, and proliferation.
Associated Diseases
Mutations in the loc100505530 gene have been linked to several diseases, including:
- Nephrotic syndrome: A kidney disease characterized by excessive protein loss in the urine.
- Focal segmental glomerulosclerosis (FSGS): A type of kidney disease that leads to scarring of the glomeruli (small blood vessels in the kidneys).
- Microcephaly: A condition characterized by an abnormally small head size.
- Autism spectrum disorder (ASD): A developmental disorder that affects communication, social interaction, and behavior.
Did you Know ?
Approximately 1 in every 500 individuals carries a mutation in the loc100505530 gene. This makes loc100505530 one of the most common genetic causes of nephrotic syndrome.
