XB-GENEPAGE-5893466
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tbc1d23
???displayGene.name???:
TBC1 domain family member 23
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(
Nomenclature history )
???displayGene.geneFunction???
Uncharacterized conserved protein, contains TBC and Rhodanese domains
AI Protein Function
:
tbc1d23 encodes a Rab GTPase‑activating protein that regulates vesicle trafficking between endosomes and the trans‑Golgi network, influencing membrane transport and lysosome biogenesis; the protein loc...[+]
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Diseases:
Disease Ontology:
pontocerebellar hypoplasia type 11
MIM:
PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11
External Links:
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