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Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
WD repeat and FYVE domain-containing protein 3 is a protein that in humans is encoded by the WDFY3 gene.[5][6]
WDFY3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | WDFY3, ALFY, ZFYVE25, WD repeat and FYVE domain containing 3, BCHS, MCPH18 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 617485; MGI: 1096875; HomoloGene: 22855; GeneCards: WDFY3; OMA:WDFY3 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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This gene encodes a protein which contains WD repeats and an FYVE domain. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined.[6]
This protein appears to act as a autophagy scaffolding protein.[7]
Mutations in this gene have been associated with neurodevelopmental delay, intellectual disability, macrocephaly and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder).[7]
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