PHF10

Chr 6

PHD finger protein 10

Also known as: BAF45A, SMARCG4, XAP135

NCBI Gene: 55274 ENSG00000130024 UniProt: Q8WUB8

PHF10 encodes a chromatin remodeling protein that belongs to the neural progenitor-specific BAF complex (npBAF) and regulates transcription by switching from stem cell to neuronal chromatin remodeling during brain development. Mutations cause Bainbridge-Ropers syndrome, an autosomal dominant neurodevelopmental disorder characterized by intellectual disability, developmental delay, autism spectrum disorder, and distinctive facial features. The gene shows tolerance to loss-of-function variants (low pLI score), suggesting the disorder may involve complex mechanisms affecting chromatin remodeling in developing neural tissue.

ResearchSummary from RefSeq, UniProt

This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.64

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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