NME8


Description

The NME8 (NME/NM23 family member 8) is a protein-coding gene located on chromosome 7.

The NME8 gene, also known as TXNDC3, is located on chromosome 7 and encodes a protein with a thioredoxin domain and three nucleoside diphosphate kinase (NDK) domains. While the NDK domains are believed to be inactive, the protein is implicated in ciliary function. Mutations in the NME8 gene are linked to primary ciliary dyskinesia.

The NME8 protein is likely essential during the final stages of sperm tail maturation in the testes or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins takes place. Despite its structural similarity, it lacks the nucleoside diphosphate kinase (NDPK) activity and disulfide bond reduction capability that are common in related proteins. Interestingly, NME8 demonstrates a 3'-5' exonuclease activity with a preference for single-stranded DNA, implying roles in DNA proofreading and repair.

NME8 is also known as CILD6, DNAI8, HEL-S-99, NM23-H8, SPTRX2, TXNDC3, sptrx-2.

Associated Diseases


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