NME8

NME8 (also known as Non-metastatic cells 8, protein expressed in) is a protein that in humans is encoded by the NME8 gene. The NME8 gene is located on the long (q) arm of chromosome 7 at position 22.1.

Function

NME8 is a member of the NME/NM23 family of nucleoside diphosphate kinases. These enzymes catalyze the transfer of phosphate groups from nucleoside triphosphates to nucleoside diphosphates. NME8 has been found to be involved in the regulation of ciliary function, and mutations in this gene have been associated with Primary Ciliary Dyskinesia (PCD), a disorder characterized by chronic respiratory tract infections.

Clinical significance

Mutations in the NME8 gene have been associated with a form of Primary Ciliary Dyskinesia (PCD) that has unique clinical features. PCD is a rare, genetically heterogeneous disorder characterized by chronic upper and lower respiratory tract disease due to abnormal ciliary structure and function.

Research

Research into the NME8 gene and its associated protein is ongoing, with studies focusing on its role in ciliary function and its potential involvement in other diseases.

See also

• NME/NM23 nucleoside diphosphate kinase
• Primary Ciliary Dyskinesia
• Chromosome 7

External links

• NCBI Gene
• Genetics Home Reference

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