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FLASH GENE
Symbol PAPSS2 contributors: npt/mct - updated : 10-10-2016
HGNC name 3'-phosphoadenosine 5'-phosphosulfate synthase 2
HGNC id 8604
ASSOCIATED DISORDERS
corresponding disease(s) SEMD4 , BCYM4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation     loss of function
PAPSS2 deficiency is a monogenic adrenocortical cause of androgen excess
constitutional       loss of function
causes androgen excess via impaired DHEA sulfation, and is associated with a phenotype resembling polycystic ovary syndrome
Susceptibility to osteoarthritis(minor role in japanese)
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS