GPC6 gene

glypican 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Omodysplasia 1

From UniProt:

Omodysplasia 1 (OMOD1): 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. [MIM:258315]

Cytogenetic Location: 13q31.3-q32.1, which is the long (q) arm of chromosome 13 between positions 31.3 and 32.1

Molecular Location: base pairs 93,226,825 to 94,408,020 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q31.3-q32.1, which is the long (q) arm of chromosome 13 between positions 31.3 and 32.1
  • OMIMD1