DISEASES

Disease-gene associations mined from literature

Literature associating SULT2B1 and Charcot-Marie-Tooth disease type 1D

SULT2B1 [ENSP00000201586]

Sulfotransferase family, cytosolic, 2B, member 1; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol. Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation.

Synonyms:  SULT2B1,  SULT2B1p,  hSULT2B1,  O00204,  SULT2B1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM