XB-GENEPAGE-1004081
???displayGene.symbol???:
dmxl2
???displayGene.name???:
Dmx-like 2
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(
Nomenclature history )
???displayGene.geneFunction???
RAVE (regulator of V-ATPase assembly) complex subunit RAV1/DMX protein, WD repeat superfamily
AI Protein Function
:
dmxl2 encodes a WD‑repeat scaffold protein that participates in vesicle‑mediated transport. The protein localizes to the cytoplasm and Golgi apparatus. Expression is detected in the brain, spinal cord,...[+]
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Diseases:
Disease Ontology:
autosomal dominant nonsyndromic deafness
MIM:
DEAFNESS, AUTOSOMAL DOMINANT 71; DFNA71
External Links:
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