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FLASH GENE

Symbol

PTCH2

contributors: mct/npt - updated : 11-10-2016

HGNC name	patched homolog 2 (Drosophila)
HGNC id	9586

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BCNS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in basal cell carcinoma and medulloblastoma tumoral germinal mutation       in Naevoid basal cell carcinoma syndrome (NBCCS) constitutional       loss of function concomitant loss of PTCH1 and PTCH2 activity inhibits epidermal lineage specification and differentiation

Susceptibility

to macrostomia

Variant & Polymorphism other	germline PTCH2 mutation (1423G A, resulting in Val471Ile) mutation may be associated with macrostomia (fan 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

direct link between overproliferation and retinal dysplasia in the ptc2 -/- juvenile zebrafish retina