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ACAN

This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene.
Protein class

Disease related genes, Human disease related genes

Predicted location

Intracellular, Secreted (different isoforms)

Single cell type specificity

Group enriched (Granulosa cells, Extravillous trophoblasts)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enriched (WM-115)

Interaction

Interacts with FBLN1 (By similarity). Interacts with COMP.

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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