Disease-gene associations mined from literature

Literature associating MICALL2 and retinitis pigmentosa 44

MICALL2 [ENSP00000297508]

Molecule interacting with CasL-like 2; Effector of small Rab GTPases which is involved in junctional complexes assembly through the regulation of cell adhesion molecules transport to the plasma membrane and actin cytoskeleton reorganization. Regulates the endocytic recycling of occludins, claudins and E-cadherin to the plasma membrane and may thereby regulate the establishment of tight junctions and adherens junctions. In parallel, may regulate actin cytoskeleton reorganization directly through interaction with F-actin or indirectly through actinins and filamins. Most probably involved in the processes of epithelial cell differentiation, cell spreading and neurite outgrowth (By similarity); LIM domain containing

Synonyms:  MICALL2,  MICALL2p,  hMICALL2,  Q8IY33,  JRAB ...

Linkouts:  STRING  Pharos  UniProt