DISEASES

Disease-gene associations mined from literature

Literature associating ITM2C and connective tissue benign neoplasm

ITM2C [ENSP00000322730]

Integral membrane protein 2C; Negative regulator of amyloid-beta peptide production. May inhibit the processing of APP by blocking its access to alpha- and beta-secretase. Binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor. May play a role in TNF-induced cell death and neuronal differentiation (By similarity).

Synonyms:  ITM2C,  ITM2Cp,  hITM2C,  A0A024R466,  B8ZZM6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM