Hgd
entrez
15233
canonical
uniprot
O09173
canonical
ensembl
ENSMUSG00000022821
resolver
ensp
ENSMUSP00000125492
resolver
enst
ENSMUST00000160847
resolver
genesymbol
Hgd
resolver
genesymbol_syn
Aku
resolver
genesymbol_syn
Hgo
resolver
uniprot
Q7TPP2
resolver
uniprot_entry
HGD_MOUSE
resolver
uniprot_sec
Q7TPP2
resolver
amino_acid_sequence
MAELKYISGFGNECASEDPRCPGSLPKGQNNPQVCPYNLYAEQLSGSAFTCPRNTNKRSWLYRILPSVSHKPFESIDQGHVTHNWDEVGPDPNQLRWKPFEIPKASEKKVDFVSGLYTLCGAGDIKSNNGLAVHIFLCNSSMENRCFYNSDGDFLIVPQKGKLLIYTEFGKMSLQPNEICVIQRGMRFSVDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPVAWYEDRRVPGGYTVINKFQGKLFACKQDVSPFNVVAWHGNYTPYKYNLENFMVINAVAFDHADPSIFTVLTAKSLRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIKGHYEAKQGGFLPGGGSLHSAMTPHGPDADCFEKASKAKLEPERIADGTMAFMFESSLSLAVTKWGLKTCSCLDENYYKCWEPLRSHFTPNSRSPTEPK
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Hgd are the cause of alkaptonuria (aku). Aku is an autosomal recessive error of metabolism which is characterized by an increase in the level of homogentisic acid.
uniprot
proteins
ec_number
1.13.11.5
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of homogentisate to maleylacetoacetate. {ECO:0000269|PubMed:7705358}.
uniprot
proteins
mass_dalton
49960
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6.
uniprot
proteins
protein_family
Homogentisate dioxygenase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
23806337
uniprot
proteins
pubmed
7705358
uniprot
proteins
pubmed
9069115
uniprot
proteins
sequence_length
445
uniprot
proteins