DISEASES

Disease-gene associations mined from literature

Literature associating C17orf75 and early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

C17orf75 [ENSP00000464275]

Protein Njmu-R1; As component of the WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 . May have a role in spermatogenesis.

Synonyms:  C17orf75,  J3KRR1,  J3KT97,  J3QKQ1,  J3QRW7 ...

Linkouts:  STRING  Pharos  UniProt