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MGP001434

Record overview

MGPD IDMGP001434
Gene ID3081
SpeciesHomo sapiens (Human)
Gene Namehomogentisate 1,2-dioxygenase
Gene Symbol HGD
SynonymsAKU; HGO;
Alternate nameshomogentisate 1,2-dioxygenase; homogentisate oxidase; homogentisate oxygenase; homogentisic acid oxidase; homogentisicase;
Chromosome3
Map Location3q13.33
EC Number1.13.11.5
SummaryThis gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
OrthologsView orthologs and multiple alignments for HGD

Proteins

homogentisate 1,2-dioxygenase
Refseq ID:NP_000178
Protein GI:115527117
UniProt ID:Q93099
mRNA ID:NM_000187
Length:445
RefSeq Status:
MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPF
EIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYI
LEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTV
LTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMF
ESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPN
 
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