DISEASES

Disease-gene associations mined from literature

Literature associating ANKLE2 and primary autosomal recessive microcephaly 17

ANKLE2 [ENSP00000350686]

Ankyrin repeat and LEM domain-containing protein 2; Involved in mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit. Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex. Involved in brain development; Belongs to the ANKLE2 family.

Synonyms:  ANKLE2,  ANKLE2p,  hANKLE2,  F5H1D4,  F5H1E7 ...

Linkouts:  STRING  Pharos  UniProt