CHRAC1

Chr 8

chromatin accessibility complex subunit 1

Also known as: CHARC1, CHARC15, CHRAC-1, CHRAC-15, CHRAC15, YCL1

NCBI Gene: 54108 ENSG00000104472 UniProt: Q9NRG0 OMIM: 607268

CHRAC1 encodes a histone-fold protein that forms complexes with DNA polymerase epsilon and binds DNA for incorporation into chromatin, working with nucleosome remodeling complexes. Mutations cause autosomal recessive intellectual disability with developmental delay, often presenting in early childhood. The gene shows high constraint against loss-of-function variants (pLI 1.0), indicating intolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq, UniProt

CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.49

LOEUF

Mechanism· predicted