Disease-gene associations mined from literature

Literature associating ANKRD13A and atrial heart septal defect 5

ANKRD13A [ENSP00000261739]

Ankyrin repeat domain-containing protein 13A; Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand- activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane; Ankyrin repeat domain containing

Synonyms:  ANKRD13A,  ANKRD13,  ANKRD13-001,  ANKRD13-002,  ANKRD13-004 ...

Linkouts:  STRING  Pharos  UniProt  OMIM