Disease-gene associations mined from literature

Literature associating FERMT1 and epidermolysis bullosa simplex with mottled pigmentation

FERMT1 [ENSP00000217289]

Fermitin family homolog 1; Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression; Belongs to the kindlin family.

Synonyms:  FERMT1,  FERMT1p,  hFERMT1,  FERMT1-001,  FERMT1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM