UROD - uroporphyrinogen decarboxylase Gene

Homo sapiens

Also known as PCT; UPD

Gene ID: 7389 | Gene type: protein coding

About UROD

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:45,012,254-45,015,575 (from NCBI)

This gene has 27 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 73.9), adrenal (RPKM 43.0) and 25 other tissues.

Summary

This gene encodes an Enzyme in the heme biosynthetic pathway. This Enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this Enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]

UROD Products(1)

mRNA	Protein	Name
NM_000374.5	NP_000365.3	uroporphyrinogen decarboxylase

UROD Protein Structure

URO-D

0
100
200
300
367 a.a.

Protein Preferred Names

Protein Names

uroporphyrinogen decarboxylase

uroporphyrinogen III decarboxylase

Recombinant UROD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71080	UROD Protein, Human (His)	P06132 (M1-N367)	≥95%

Related Diseases

Diseases

Alias

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria	HEP
Uroporphyrinogen Decarboxylase Deficiency	Pct
Pct, Type Ii	Porphyria, Hepatocutaneous Type
Urod Deficiency	Porphyria, Hepatoerythropoietic
Porphyria Cutanea Tarda, Susceptibility To	Familial Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type Ii	Pct, 'Familial' Type
Porphyria, Hepatic	FPCT
Pct Type Ii	Porphyria Cutanea Tarda Type Ii
Porphyria Hepatocutaneous Type	Heterozygous Uroporphyrinogen Decarboxylase Deficiency
Urod - [Uroporphyrinogen Decarboxylase] Deficiency	Pct - [Porphyria Cutanea Tarda]

Familial Porphyria Cutanea Tarda

Familial Pct	F-Pct
Porphyria Cutanea Tarda, Type Ii	Type Ii Pct
Urod-Related Porphyria Cutanea Tarda	Porphyria Cutanea Tarda Type Ii
Porphyria Cutanea Tarda, Familial Type	Porphyria Cutanea Tarda

Porphyria

Hematoporphyria	Porphyrias
Disorder Of Porphyrin And Hem Metabolism	Disorder Of Porphyrin Metabolism
Porphyrinopathy	Porphyrin Disorder
Disorder Of Porphyrin And Heme Metabolism	Disorders Of Porphyrin Metabolism

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Porphyria Cutanea Tarda, Type I

Sporadic Porphyria Cutanea Tarda	Pct, Type I
Pct, 'Sporadic' Type	Porphyria Cutanea Tarda Type I
Porphyria Cutanea Tarda, Sporadic Type

Siderosis

Pulmonary Siderosis	Deposition Of Iron
Arc-Welders' Disease	Arc-Welders' Lung
Arc-Welders' Nodulation	Arc-Welders' Pneumoconiosis
Iron Oxide Lung	Iron Pneumoconiosis
Pneumoconiosis Siderotico	Siderotic Lung Disease
Steel Grinders' Disease	Welders' Lung
Welders' Siderosis	Lung Fibrosis With Siderosis

Acute Porphyria

Porphyrias, Hepatic	Hepatic Porphyria
Porphyria Hepatic	Acute Intermittent Porphyria

Porphyria, Acute Intermittent

Acute Intermittent Porphyria	Porphobilinogen Deaminase Deficiency
Pbgd Deficiency	AIP
Porphyria, Swedish Type	Uroporphyrinogen Synthase Deficiency
Ups Deficiency	Porphyria, Acute Intermittent, Nonerythroid Variant
Hydroxymethylbilane Synthase Deficiency	Aip - Acute Intermittent Porphyria
Porphyria Intermittent Acute	Pyrroloporphyria
Hmbs Deficiency	Porphyria Acute Intermittent

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Porphyria, Congenital Erythropoietic

Congenital Erythropoietic Porphyria	Gunther Disease
CEP	Uros Deficiency
Günther Disease	Uroporphyrinogen Iii Synthase Deficiency
Congenital Porphyria	Uroporphyrinogen Iii Synthase, Deficiency Of
Porphyria, Erythropoietic, Congenital	Porphyria, Erythropoietic
Deficiency Of Uroporphyrinogen Iii Synthase

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Hypertrichosis

Sideroblastic Anemia

Anemia Sideroblastic	Anemia, Sideroblastic
Anemia, Hypochromic With Iron Loading

Cicatricial Ectropion

Photoparoxysmal Response 1

Photosensitivity Disease	Photodermatitis
Photosensitivity Disorders	PPR1
Ppr	Photosensitivity
Photoconvulsive Reaction	Epilepsy, Photogenic
Photosensitivity Of Skin	Dermatitis, Phototoxic

Coproporphyria, Hereditary

Hereditary Coproporphyria	Coproporphyria
Coproporphyrinogen Oxidase Deficiency	HCP
Cpo Deficiency	Cpox Deficiency
Cpx Deficiency	Hereditary Coproporphyria Porphyria
Cpro Deficiency	Coproporphyria Hereditary
Porphyria Hepatica Ii	Porphyria Hepatica Coproporphyria
Porphyria, Hereditary Coproporphyria	Harderoporphyria

Scleromalacia Perforans

Mulchandani-Bhoj-Conlin Syndrome

MBCS	Maternal Uniparental Disomy Of Chromosome 20
Maternal Upd(20)	Upd(20)Mat
Uniparental Disomy, Maternal, Chromosome 20

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria	Epp
Ferrochelatase Deficiency	Protoporphyria, Erythropoietic
Erythrohepatic Protoporphyria	Heme Synthetase Deficiency
Autosomal Erythropoietic Protoporphyria	EPP1
Protoporphyria	Protoporphyria Erythropoietic

Acute Hemorrhagic Pancreatitis

Pancreatitis, Acute Hemorrhagic

Spondylolysis

Acquired Spondylolysis

Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14	Uniparental Disomy, Paternal, Chromosome 14
Kos	Mca Due To 14q32.2 Maternally Expressed Gene Defect
Paternal Uniparental Disomy 14	Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion
Maternal Del(14)(Q32.2)	Maternal Monosomy 14q32.2
Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation	Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upd(14)Pat

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic 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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15509	UROD Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	UROD	VGNC	VGNC:66856
Mus musculus	UROD	MGD	MGI:98916
Canis familiaris	UROD	VGNC	VGNC:48169
Macaca mulatta	UROD	VGNC	VGNC:78730
Bos taurus	UROD	VGNC	VGNC:36701
Rattus norvegicus	UROD	RGD	RGD:3946
Others	UROD	NCBI