DISEASES

Disease-gene associations mined from literature

Literature associating AKAP8L and Pelger-Huet anomaly

AKAP8L [ENSP00000380557]

Neighbor of A-kinase-anchoring protein 95; Could play a role in constitutive transport element (CTE)-mediated gene expression by association with DHX9. Increases CTE-dependent nuclear unspliced mRNA export. Proposed to target PRKACA to the nucleus but does not seem to be implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and chromatin condensation. May be involved in anchoring nuclear membranes to chromatin in interphase and in releasing membranes from chromating at mitosis. May regulate the initiation phase of DNA replication when associated with TMPO isoform Beta. Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function seems to act redundantly with AKAP8. May be involved in regulation of pre-mRNA splicing; Belongs to the AKAP95 family.

Synonyms:  AKAP8L,  AKAP8Lp,  hAKAP8L,  AKAP8L-001,  AKAP8L-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM