GPC6

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.

Full Name

glypican 6

Function

Cell surface proteoglycan that bears heparan sulfate. Putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases (By similarity).

Enhances migration and invasion of cancer cells through WNT5A signaling.

Biological Process

Cell migration Source: UniProtKB
Regulation of neurotransmitter receptor localization to postsynaptic specialization membrane Source: GO_Central
Regulation of presynapse assembly Source: GO_Central
Regulation of protein localization to membrane Source: GO_Central
Regulation of signal transduction Source: InterPro
Synaptic membrane adhesion Source: GO_Central

Cellular Location

Cell membrane
Secreted glypican-6: Extracellular space

Involvement in disease

Omodysplasia 1 (OMOD1):
The disease is caused by variants affecting the gene represented in this entry. 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.
A rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and 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.