IGSF4C Polyclonal Antibody, 50ul Sample Library Tubes Mutations in PIKFYVE cause corneal

Mutations in PIKFYVE cause corneal fleck dystrophy (CFD)

MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al

The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis

These complexes consist of a catalytic subunit associating with a specific regulatory subunit to form the active kinase

IGSF4C Polyclonal Antibody, 50ul Sample Library Tubes Mutations in PIKFYVE cause cornealInvolved in the cell cell adhesion. Has calcium and magnesium independent cell cell adhesion activity. May have tumor suppressor activity.