RTP2
RTP2 Gene: Uncovering the Intricacies of Heart Health and Beyond
Description
The RTP2 gene, located on chromosome 17, plays a pivotal role in encoding the receptor tyrosine kinase-like orphan receptor 2 (ROR2) protein. ROR2 is a cell surface receptor that belongs to the receptor tyrosine kinase (RTK) family, known for its involvement in various cellular processes, including cell growth, differentiation, and signal transduction.
Associated Diseases
Mutations or alterations in the RTP2 gene have been linked to a number of genetic disorders, predominantly affecting the heart and gastrointestinal system:
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Familial Hypertrophic Cardiomyopathy (HCM): A condition characterized by abnormal thickening of the heart muscle, increasing the risk of heart failure and arrhythmias.
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Short Bowel Syndrome (SBS): A rare disorder characterized by the inability to absorb adequate nutrients due to a diminished small intestine, leading to malnutrition and dehydration.
Did you Know ?
Approximately 1 in 500 individuals are affected by familial hypertrophic cardiomyopathy, with mutations in the RTP2 gene accounting for roughly 20% of inherited HCM cases.
