DISEASES

Disease-gene associations mined from literature

Literature associating SULT2B1 and hereditary sensory and autonomic neuropathy type 1

SULT2B1 [ENSP00000201586]

Sulfotransferase 2B1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:19589875, PubMed:12145317). Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandrosterone (DHEA) . Preferentially sulfonates cholesterol, while it has also significant activity with pregnenolone and DHEA . Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation . ECO:0000269|PubMed:19589875, ECO:0000269|PubMed:21855633,

Synonyms:  SULT2B1,  SULT2B1p,  hSULT2B1,  O00204,  O00204p ...

Linkouts:  STRING  Pharos  UniProt  OMIM