DISEASES

Disease-gene associations mined from literature

Literature associating PTPN23 and variegate porphyria

PTPN23 [ENSP00000265562]

His domain-containing protein tyrosine phosphatase; Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes. May act as a negative regulator of Ras-mediated mitogenic activity. Plays a role in ciliogenesis; Protein tyrosine phosphatases, non-receptor type

Synonyms:  PTPN23,  PTPN23p,  hPTPN23,  B4DST5,  C9JD91 ...

Linkouts:  STRING  Pharos  UniProt  OMIM