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Protein-coding gene in the species Homo sapiens
WD repeat and FYVE domain-containing protein 3 is a protein that in humans is encoded by the WDFY3 gene .[ 5] [ 6]
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]
^ a b c GRCh38: Ensembl release 89: ENSG00000163625 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000043940 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (Jul 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro" . DNA Res . 6 (1): 63–70. doi :10.1093/dnares/6.1.63 PMID 10231032 . ^ a b "Entrez Gene: WDFY3 WD repeat and FYVE domain containing 3" .^ a b Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB10, Hildebrand MS12,17, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S11, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R (2019) Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size. Brain
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