XB-GENEPAGE-993454
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phf8
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PHD finger protein 8
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Nomenclature history )
???displayGene.geneFunction???
F-box protein JEMMA and related proteins with JmjC, PHD, F-box and LRR domains
AI Protein Function
:
phf8 encodes a nuclear JmjC‑domain histone demethylase that removes methyl groups from H3K9me2/1 and H4K20me1, acting as a transcriptional regulator; expression is detected in the neural plate, neural ...[+]
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Diseases:
Disease Ontology:
syndromic X-linked intellectual disability Siderius type
MIM:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE; MRXSSD
External Links:
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