Gene: HECTD3

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: HECT domain E3 ubiquitin protein ligase 3

Type of Gene: protein-coding

Gene: UROD

Alternate names for this Gene: PCT|UPD

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: uroporphyrinogen decarboxylase

Type of Gene: protein-coding

rs121918060 in HECTD3;UROD gene and Porphyria Cutanea Tarda PMID 3775362 1986 Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.

PMID 21668429 2011 Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

PMID 8896428 1996 Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.

PMID 8644733 1996 Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

PMID 8176248 1994 Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

PMID 17240319 2007 Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).

PMID 15491440 2004 Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.

PMID 1905636 1991 Identification of a new mutation responsible for hepatoerythropoietic porphyria.

PMID 1634232 1992 Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.

PMID 12071824 2002 Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.

PMID 9792863 1998 Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.

PMID 7706766 1995 A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.

PMID 11295834 2001 Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).

PMID 2243121 1990 Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.

PMID 11719352 2001 Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.

PMID 10477430 1999 Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.

PMID 11069625 2000 Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

PMID 10338097 1999 Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.

PMID 2920211 1989 A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.