Glypican 6 (GPC6) ELISA Kit for Human

The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]

GPC6: Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Enhances migration and invasion of cancer cells through WNT5A signaling. Defects in GPC6 are a cause of omodysplasia type 1 (OMOD1). OMOD1 is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Point mutations leading to protein truncation, as well as larger genomic rearrangements resulting in exon deletions, have been found in family segregating omodysplasia type 1. All mutations identified in individuals affected by omodysplasia could lead to the absence of a functional protein, the mutant RNAs being suspected to be nonsense-mediated mRNA decay (NMD) targets. Even if the mRNA escapes NMD and is translated, all mutations are expected to disrupt the three-dimensional protein structure and often to abolish multiple highly conserved cysteine residues. Belongs to the glypican family.

Protein type: Cell surface; Membrane protein, GPI anchor; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 13q31.3-q32.1

Cellular Component: extracellular space; Golgi lumen; integral component of plasma membrane; lysosomal lumen; nucleus; plasma membrane; proteinaceous extracellular matrix

Molecular Function: heparan sulfate proteoglycan binding

Biological Process: cell migration; glycosaminoglycan biosynthetic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; retinoid metabolic process; Wnt receptor signaling pathway, planar cell polarity pathway

Disease: Omodysplasia 1