Homogentisate 1,2-Dioxygenase

Alternative Names

  • HGD
  • HGO

Associated Diseases

Alkaptonuria
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OMIM Number

607474

NCBI Gene ID

3081

Uniprot ID

Q93099

Length

54,404 bases

No. of Exons

16

No. of isoforms

1

Protein Name

Homogentisate 1,2-dioxygenase

Molecular Mass

49964 Da

Amino Acid Count

445

Genomic Location

chr3:120,628,168-120,682,571

Gene Map Locus
3q21-q23

Description

Homogentisate 1,2-Dioxygenase (HGD) is an enzyme that is involved in carrying out one of the steps in the catalytic degradation of phenylalanine and tyrosine. Specifically, this step involves the oxidation of homogentisic acid, a catabolic derivative of both amino acids, to maleylacetoacetate. This latter compound is further acted on by other enzymes that break it down to other substrates, producing energy in the process.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000187.3:c.1221G>AAlgeriaNC_000003.12:g.120628497C>TBenign, Likely BenignLikely BenignAlkaptonuriaNG_011957.1:g.58985G>A; NM_000187.3:c.1221G>A; NP_000178.2:p.Ala407=146206905342735
NM_000187.3:c.16-1G>AAlgeriaNC_000003.12:g.120675864C>TPathogenicPathogenicAlkaptonuriaNG_011957.1:g.11618G>A; NM_000187.3:c.16-1G>A; NP_000178.2:p.?3975153473170
NM_000187.3:c.175delUnited Arab EmiratesNC_000003.12:g.120674903delPathogenicPathogenicAlkaptonuriaNG_011957.1:g.12580del; NM_000187.3:c.175del; NP_000178.2:p.Ser59AlafsTer523975155173171
NM_000187.3:c.566G>TAlgeriaNC_000003.12:g.120646350C>APathogenicAlkaptonuriaNG_011957.1:g.41132G>T ; NM_000187.3:c.566G>T; NP_000178.2:p.Ser189Ile
NM_000187.3:c.652delGAlgeriaNC_000003.12:g.120644444delPathogenicPathogenicAlkaptonuriaNG_011957.1:g.43041del; NM_000187.3:c.652delG; NP_000178.2:p.Ala218ProfsTer11786204662189061
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