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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

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   downregulation of PCSK5 during cloaca development into the rectum and urethra might be related to the formation of anorectal malformations (ARM) constitutional germinal mutation       in a patient with the VACTERL association

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

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