LOC102060414
The Intriguing World of LOC102060414: A Comprehensive Guide
Description
LOC102060414, also known as C10orf10 or CHORDC1-like, is a gene that plays a crucial role in our biological functions. Located on chromosome 10, it encodes a protein that is involved in various cellular processes, including transcription regulation, cell differentiation, and immune response.
Associated Diseases
Mutations or variations in the LOC102060414 gene have been linked to several human diseases, such as:
- Charcot-Marie-Tooth Disease Type 2L (CMT2L): A progressive neurological disorder that affects the peripheral nerves, causing muscle weakness and atrophy.
- Congenital Malabsorptive Diarrhea with Hypochloremia, Hyponatremia, and Normal Acidification (CHDDH): A rare genetic condition characterized by severe diarrhea, electrolyte imbalances, and impaired intestinal absorption.
- Hematological Malignancies: Studies suggest that alterations in the LOC102060414 gene may contribute to the development of certain blood cancers, such as acute myeloid leukemia and myelodysplastic syndrome.
Did you Know ?
According to the National Library of Medicine, mutations in the LOC102060414 gene account for approximately 5% of all cases of Charcot-Marie-Tooth Disease Type 2L. This highlights the significant impact of genetic variations in LOC102060414 on neurological disorders.
