LOC100128554
Description:
Loc100128554 is a gene located on chromosome 10 that plays a crucial role in various biological processes within the human body. It encodes a protein known as protein-tyrosine phosphatase, receptor type, M (PTPRM).
PTPRM is a transmembrane protein found in the plasma membrane of cells. It belongs to the protein-tyrosine phosphatase (PTP) family, which functions in signal transduction pathways by removing phosphate groups from target proteins. PTPRM specifically dephosphorylates the tyrosine residues of several receptor tyrosine kinases (RTKs), thereby negatively regulating their signaling activities.
Associated Diseases:
Mutations in the loc100128554 gene have been associated with several diseases and disorders, including:
- Noonan syndrome: A genetic disorder characterized by distinctive facial features, short stature, heart defects, and developmental delays.
- Cardiomyopathy: A disease of the heart muscle that can lead to heart failure.
- Leukemia: A type of cancer that affects the blood cells.
- Intellectual disability: A condition characterized by limitations in intellectual functioning and adaptive behavior.
- Neurological disorders: Mutations in loc100128554 have been implicated in developmental brain disorders and neurodegenerative diseases such as Parkinson's disease and Alzheimer's disease.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are estimated to have a mutation in the loc100128554 gene.
