ASF1A

Chr 6

anti-silencing function 1A histone chaperone

Also known as: CGI-98, CIA, HSPC146

NCBI Gene: 25842 ENSG00000111875 UniProt: Q9Y294

This gene encodes a histone chaperone protein that facilitates nucleosome assembly and disassembly by mediating histone H3/H4 deposition, exchange, and removal during DNA replication and repair. Mutations cause neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed development, inherited in an autosomal dominant pattern. The disorder typically presents in early infancy with seizures and developmental delays affecting multiple organ systems.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.48

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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