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PTCH2
Patched
2
is a
protein
that in
humans
is encoded by the PTCH2
gene
.
Function
This gene encodes a
transmembrane receptor
of the
patched
gene family
. The encoded protein may
function
as a
tumor suppressor
in the
hedgehog signaling pathway
.
Clinical
significance
Alterations
in this gene have been associated with
nevoid basal cell carcinoma syndrome
,
basal cell carcinoma
,
medulloblastoma
, and susceptibility to
congenital
macrostomia
.