DISEASES

Disease-gene associations mined from literature

Literature associating CLN5 and neuronal ceroid lipofuscinosis 8 northern epilepsy variant

CLN5 [ENSP00000366673]

Ceroid-lipofuscinosis neuronal protein 5; Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane.

Synonyms:  CLN5,  CLN5p,  hCLN5,  A0A024R644,  B4E1V6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM