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FLASH GENE

Symbol

UROD

contributors: np/ - updated : 22-02-2006

HGNC name	uroporphyrinogen decarboxylase
HGNC id	12591

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PCT1 porphyria cutanea tarda, type I
Location	1p34.1      Physical location : 45.477.804 - 45.481.341
Synonym name	fifth enzyme of the heme biosynthetic pathway2
	uroporphyrinogen III decarboxylase
Synonym symbol(s)	PCT, URO-D, UPD
EC.number	4.1.1.37

DNA

TYPE	functioning gene
STRUCTURE	3.51 kb     10 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000374 10 - 1408 NP_000365 40.65 367 - -

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Skin/Tegument skin       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

uroporphyrinogen decarboxylase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

catalyzing coproporphyrinogen IX formation, fifth step of porphyrin synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCT1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS