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FLASH GENE

Symbol

PANK2

contributors: mct - updated : 26-10-2016

HGNC name	pantothenate kinase 2
HGNC id	15894

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

PKAN , HARP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Pank2(-/-) mouse model did not recapitulate the human disease but showed azoospermia and mitochondrial dysfunctions