Synonyms:ENTREZ:7390, HGNC:12592, MIM:606938, NM_000375, NM_001324036, NM_001324037, NM_001324038, NM_001324039, NP_000366, NP_001310965, NP_001310966, NP_001310967, NP_001310968, NR_136675, NR_136676, NR_136677, NR_136678, UROIIIS, UROS, XM_005270140, XM_011540127, XM_017016611, XM_017016612, XM_024448154, XM_024448155, XP_005270197, XP_011538429, XP_016872100, XP_016872101, XP_024303922, XP_024303923, XR_001747196, XR_001747197, XR_002957009, XR_002957010, XR_246103, XR_945810, uroporphyrinogen III synthase
Omim:OMIM:606938
Id:ENSG00000188690
Hgnc:HGNC:12592
Description:uroporphyrinogen III synthase
The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]