HGD

GENE INFORMATION

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Gene name

HGD (HGNC Symbol)

Synonyms

AKU, HGO

Description

Homogentisate 1,2-dioxygenase (HGNC Symbol)

Entrez gene summary

This 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]

Chromosome

3

Cytoband

q13.33

Chromosome location (bp)

120628173 - 120682571

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000113924 (version 78.38)

Entrez gene

3081

UniProt

Q93099 (UniProt - Evidence at protein level)

neXtProt

NX_Q93099

Antibodypedia

HGD antibodies
 

PROTEIN VIEW

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HGD-001
 
HGD-005
 
HGD-006
 
HGD-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HGD-001 ENSP00000283871
ENST00000283871
Q93099
Show all »
Show » Show » 445 50 No 0
HGD-005 ENSP00000417977
ENST00000475447
Show » Show » 88 9.8 No 0
HGD-006 ENSP00000419163
ENST00000494453
Show » Show » 145 16.2 No 0
HGD-010 ENSP00000419560
ENST00000476082
C9JTX9
Show all »
Show » Show » 142 16.1 No 0