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MGP003280

Record overview

MGPD IDMGP003280
Gene ID7390
SpeciesHomo sapiens (Human)
Gene Nameuroporphyrinogen III synthase
Gene Symbol UROS
SynonymsUROIIIS;
Alternate namesuroporphyrinogen-III synthase; hydroxymethylbilane hydrolyase; uroporphyrinogen-III cosynthase;
Chromosome10
Map Location10q25.2-q26.3
EC Number4.2.1.75
SummaryThe 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]
OrthologsView orthologs and multiple alignments for UROS

Proteins

uroporphyrinogen-III synthase
Refseq ID:NP_000366
Protein GI:4557873
UniProt ID:P10746
mRNA ID:NM_000375
Length:265
RefSeq Status:
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKTEVWERSLKEKWNAKSVYVVG
NATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGIAMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSG
LTYSLKHIQELSGDNIDQIKFAAIGPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC
 
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