gene: CBX5

organismHomo sapiens
full namechromobox 5
summaryThis gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

NC_000012.11:g.53784698_54741363del AND Neurodevelopmental disorder

GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3 AND See cases

GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 AND See cases

GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) AND See cases

NC_000012.11:g.(?_1)_(133851895_?)dup AND See cases

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