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FLASH GENE

Symbol

PCSK5

contributors: mct/npt - updated : 25-05-2018

HGNC name	proprotein convertase subtilisin/kexin type 5
HGNC id	8747

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ANIMAL & CELL MODELS

mouse mutation (Vcc) with a pleiotropic phenotype type VACTERL that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia, resulting from a C470R mutation in the proprotein convertase Pcsk5