Cell surface proteoglycan that bears heparan sulfate. May be involved in the development of kidney tubules and of the central nervous system (By similarity).
Keipert syndrome
KPTS
An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the glypican family.
UNQ474/PRO937, GPC4, Glypican-4, K-glypican
Proteins
Neuroscience
62412Da
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ab246973