1. Gene
  2. HGD - homogentisate 1,2-dioxygenase Gene

HGD - homogentisate 1,2-dioxygenase Gene

Homo sapiens

Also known as AKU; HGO

Gene ID: 3081 | Gene type: protein coding

About HGD

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:120,628,172-120,682,239 (from NCBI)

This gene has 10 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Biased expression in liver (RPKM 82.5), kidney (RPKM 39.4) and 7 other tissues.

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]

HGD Products(1)

mRNA Protein Name
NM_000187.4 NP_000178.2 homogentisate 1,2-dioxygenase

HGD Protein Structure

HgmA

HgmA: homogentisate 1,2-dioxygenase (5 - 434)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 445 a.a.
Protein Preferred Names Protein Names

homogentisate 1,2-dioxygenase

homogentisate oxidase

Related Diseases

Diseases Alias
Alkaptonuria

Homogentisic Acid Oxidase Deficiency

Alcaptonuria

AKU

Deficiency Of Homogentisicase

Homogentisate 1,2-Dioxygenase Deficiency

Alkaptonuric Ochronosis

Homogentisic Acidura

Ochronosis, Hereditary

Hereditary Ochronosis

Ochronosis

Homogentisicaciduria

Deficiency Of Homogentisate Oxygenase

Ochronosis
Arthropathy

Ankylosis Of Ankle And Foot Joint

Ankylosis Of Forearm Joint

Ankylosis Of Hand Joint

Ankylosis Of Joint Of Ankle And/Or Foot

Ankylosis Of Joint Of Forearm

Ankylosis Of Joint Of Hand

Ankylosis Of Joint Of Lower Leg

Ankylosis Of Joint Of Multiple Sites

Ankylosis Of Joint Of Pelvic Region And Thigh

Ankylosis Of Joint Of Shoulder Region

Ankylosis Of Joint Of Upper Arm

Ankylosis Of Lower Leg Joint

Ankylosis Of Multiple Joints

Ankylosis Of Upper Arm Joint

Infectious Arthropathy

Joint Ankylosis Of The Ankle And Foot

Joint Ankylosis Of The Ankle And/Or Foot

Joint Ankylosis Of The Forearm

Joint Ankylosis Of The Hand

Joint Ankylosis Of The Lower Leg

Joint Ankylosis Of The Pelvic Region And Thigh

Joint Ankylosis Of The Shoulder Region

Joint Ankylosis Of The Upper Arm

Joint Diseases

Joint Disease

Arthropathy Associated With Infection

Aortic Valve Disease 2

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis

AOVD2

Bicuspid Aortic Valve

Rheumatic Aortic Valve Stenosis

Valvular Aortic Stenosis

Aortic Valve Disease, Type 2

Aortic Valve Stricture

Aortic Valve Obstruction

Obstructed Aorta Valve

Rheumatic Aortic Obstruction

Rheumatic Aortic Valve Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Aortic Insufficiency With Stenosis

Rheumatic Aortic Valve Stenosis With Insufficiency

Rheumatic Aortic Stenosis With Incompetence

Rheumatic Aortic Stenosis With Regurgitation

Pentosuria

Xylitol Dehydrogenase Deficiency

L-Xylulosuria

L-Xylulose Reductase Deficiency

Essential Pentosuria

PNTSU

Essential Benign Pentosuria

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Palmoplantar Keratoderma, Punctate Type Iii

Acrokeratoelastoidosis Of Costa

Ake

Punctate Palmoplantar Keratoderma Type Iii

PPKP3

Keratoderma, Palmoplantar, Punctate Type 3

Punctate Palmoplantar Hyperkeratosis Type 3

Punctate Palmoplantar Keratoderma Type 3

Rare Form Of Hirschsprung'S Disease

Acrokeratoelastoidosis

Collagenous Plaques Of Hands And Feet

Aganglionosis, Total Intestinal

Collagenous Plaques Of Hand And Feet

Palmoplantar Keratoderma, Punctate Type 3

Aganglionosis, Total Colonic

Ntia

Near-Total Intestinal Aganglionosis

Tia

Tyrosinemia, Type Ii

Tyrosinemia Type Ii

Oculocutaneous Tyrosinemia

Richner-Hanhart Syndrome

Tyrosine Aminotransferase Deficiency

Tat Deficiency

Tyrosine Transaminase Deficiency

Keratosis Palmoplantaris With Corneal Dystrophy

TYRSN2

Oregon Type Tyrosinemia

Tyrosinemia Type 2

Tyrosinosis Oculocutaneous Type

Tyrosinosis, Oculocutaneous Type

Richner Hanhart Syndrome

Keratosis Palmoplantaris-Corneal Dystrophy Syndrome

Tyrosinemia Due To Tat Deficiency

Tyrosinemia Due To Tyrosine Aminotransferase Deficiency

Tyrosinemia 2

Tyrosinemia Oregon Type

Tyrosine Transaminase Deficiency Disease

Human Granulocytic Anaplasmosis

Human Granulocytic Ehrlichiosis

Hge

Human Ehrlichial Infection, Human Granulocytic Type

Human Anaplasmosis Due To Anaplasma Phagocytophilum

Tyrosinemia, Type Iii

Tyrosinemia Type Iii

4-Hydroxyphenylpyruvate Dioxygenase Deficiency

TYRSN3

4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Type 3

4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency

4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency

Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency

Tyrosinemia Due To Hpd Deficiency

Tyrosinemia 3

Tyrosinemia, Type I

Tyrosinemia Type I

Hepatorenal Tyrosinemia

Fumarylacetoacetase Deficiency

Fah Deficiency

TYRSN1

Fumarylacetoacetate Hydrolase Deficiency

Tyrosinemia Type 1

Tyrosinemia 1

Fumarylacetoacetase

Conjunctival Pigmentation
Abdominal Obesity-Metabolic Syndrome 1

Metabolic Syndrome X

Metabolic Syndrome

AOMS1

Dysmetabolic Syndrome X

Metabolic Disease

Abdominal Obesity Metabolic Syndrome

Tyrosinemia

Hypertyrosinemia

Tyrosinemias

Hereditary Tyrosinemia

Hypertyrosinaemia

Tyrosinaemia

Hereditary Hypertyrosinemia

Sialolithiasis

Sialolith

Stone Of Salivary Gland Or Duct

Salivary Gland Calculi

Salivary Gland Stone

Calculus Of Salivary Gland Or Duct

Calculus Of Salivary Gland

Salivary Calculus

Salivary Gland Calculus

Salivary Stone

Salivary Duct Calculi

Sialodocholithiasis

Ehrlichiosis

Human Ehrlichiosis

He

Hey

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors

Inborn Errors Of Amino Acid Metabolism

Disorder Of Amino Acid Metabolism

Amino Acid Metabolism Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus HGD MGD MGI:96078
Macaca mulatta HGD VGNC VGNC:73372
Rattus norvegicus HGD RGD RGD:1308757
Canis familiaris HGD VGNC VGNC:41673
Bos taurus HGD VGNC VGNC:29833
Felis catus HGD VGNC VGNC:67563
Others HGD NCBI