CHAF1B Chromosome 21

Chromatin assembly factor 1 subunit B
1 variant 1 Health Risk

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What This Gene Does
Chromatin assembly factor I (CAF-I) is required for the assembly of histone octamers onto newly-replicated DNA. CAF-I is composed of three protein subunits, p50, p60, and p150. The protein encoded by this gene corresponds to the p60 subunit and is required for chromatin assembly after replication. The encoded protein is differentially phosphorylated in a cell cycle-dependent manner. In addition, it is normally found in the nucleus except during mitosis, when it is released into the cytoplasm. This protein is a member of the WD-repeat HIR1 family and may also be involved in DNA repair. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
WD repeat domain containing
Locus Type
gene with protein product
Location
21q22.12-q22.13
Ensembl
ENSG00000159259
Associated Conditions (3)
Global developmental delay
Attention deficit hyperactivity disorder
Intellectual disability
Key Variants
RS140630794
Likely pathogenic
Global developmental delay, Attention deficit hyperactivity disorder, Intellectual disability
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS140630794 Health Risk Likely pathogenic Global developmental delay, Attention deficit hyperactivity disorder, Intellectual disability
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