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FLASH GENE

Symbol

PCSK1

contributors: mct - updated : 12-06-2020

HGNC name	proprotein convertase subtilisin/kexin type 1
HGNC id	8743

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

OBS10 , BDIAS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   decreased hypothalamic PCSK1, PCSK2, FURIN in huntington disease patients constitutional       loss of function impairs prohormone processing in Prader-Willi syndrome

Susceptibility

to non insulin dependent diabetes (type II) and coronary artery disease to obesity to hypertension

Variant & Polymorphism other	N221D, and Q665E-S690T pair, associated with obesity in adults and children
	more common variants in the PCSK1 gene have been found to be associated with alterations in body mass index, increased circulating proinsulin levels, and defects in glucose homeostasis
	association of genetic variation in the PCSK1 gene with blood pressure and hypertension

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS