DISEASES

Disease-gene associations mined from literature

Literature associating GULP1 and familial hemophagocytic lymphohistiocytosis 1

GULP1 [ENSP00000386289]

PTB domain-containing engulfment adapter protein 1; May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6. ECO:0000269|PubMed:10574771, ECO:0000269|PubMed:16497666,

Synonyms:  GULP1,  GULP1p,  hGULP1,  B8ZZL1,  H0Y6R1 ...

Linkouts:  STRING  Pharos  UniProt