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C1QTNF5

This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. Diseases associated with C1QTNF5 include Late-Onset Retinal Degeneration and Microphthalmia, Isolated 5.
Protein class

Disease related genes, Human disease related genes

Predicted location

Secreted

Single cell type specificity

Cell type enhanced (Ductal cells, Fibroblasts, Gastric mucus-secreting cells, Endothelial cells, Smooth muscle cells, Exocrine glandular cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (ASC diff, fHDF/TERT166, HHSteC, hTERT-RPE1, HUVEC TERT2, TIME)

Interaction

May interact with ERFE (By similarity). Homotrimer (via collagen-like domain). May form higher order oligomers by supercoiling of the trimers.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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