Disease-gene associations mined from literature

Literature associating CLEC16A and selective immunoglobulin deficiency disease

CLEC16A [ENSP00000387122]

C-type lectin domain family 16, member A; Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health; Belongs to the CLEC16A/gop-1 family.

Synonyms:  CLEC16A,  CLEC16Ap,  hCLEC16A,  CLEC16A-001,  CLEC16A-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM