Disease-gene associations mined from literature

Literature associating MPZL1 and Noonan syndrome with multiple lentigines

MPZL1 [ENSP00000352513]

Myelin protein zero-like protein 1; Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is involved in cellular signaling induced by ConA, which probably includes Src family tyrosine- protein kinases. Isoform 3 seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA. Isoform 1, but not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility; V-set domain containing

Synonyms:  MPZL1,  MPZL1p,  hMPZL1,  A0A024R8Y3,  A8K5D4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM