DISEASES

Disease-gene associations mined from literature

Literature associating CBX5 and alpha thalassemia-X-linked intellectual disability syndrome

CBX5 [ENSP00000209875]

Heterochromatin protein 1 homolog alpha; Component of heterochromatin that recognizes and binds histone H3 tails methylated at 'Lys-9' (H3K9me), leading to epigenetic repression. In contrast, it is excluded from chromatin when 'Tyr-41' of histone H3 is phosphorylated (H3Y41ph). Can interact with lamin-B receptor (LBR). This interaction can contribute to the association of the heterochromatin with the inner nuclear membrane. Involved in the formation of functional kinetochore through interaction with MIS12 complex proteins; Chromobox family

Synonyms:  CBX5,  CBX5p,  hCBX5,  CBX5-002,  CBX5-003 ...

Linkouts:  STRING  Pharos  UniProt  OMIM