5hv9 | pdb_00005hv9
From Proteopedia
Human LTC4S mutant-S36E
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Structural highlights
Disease[LTC4S_HUMAN] Defects in LTC4S are the cause of leukotriene C4 synthase deficiency (LTC4 synthase deficiency) [MIM:246530]. LTC4 synthase deficiency is a fatal neurometabolic developmental disorder. It is associated with muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. Function[LTC4S_HUMAN] Catalyzes the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4. Contents | ||||||||||||||||||||
This page was last modified 11:45, 14 July 2016.