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FLASH GENE

Symbol

PEX12

contributors: - updated : 17-08-2007

HGNC name	peroxisomal biogenesis factor 12
HGNC id	8854

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PBD6 peroxisome biogenesis disorder 6, Zellweger spectrum
Location	17q12-q21.1      Physical location : 33.901.814 - 33.905.656
Synonym name	peroxin 12
Synonym symbol(s)	HGNC8854

DNA

TYPE	functioning gene
STRUCTURE	3.00 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

widely

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 Cardiovascular vessel       predominantly Digestive intestine small intestine     highly Lymphoid/Immune spleen       moderately Nervous brain       moderately Reproductive male system testis     specific Skin/Tegument skin       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two transmembrane segments
	a cytoplasm N terminal region required for localization to peroxisomes
	C-terminal region contains an atypical C3HC4 RING zinc finger domain essential for peroxisome function, important for its interaction with PEX5, the import receptor for PTS1-containing proteins, as well as PEX10 and PEX19

HOMOLOGY

interspecies	ortholog to chimpanzee pex12
	ortholog to rattus Pex12
	ortholog to murine Pex12
	ortholog to chicken pex12

Homologene

FAMILY

peroxin 12 family

CATEGORY

structural protein , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,peroxisome

basic FUNCTION	involved in matrix protein import into peroxisomes
	acting as an ubiquitin-protein ligase

CELLULAR PROCESS	protein, ubiquitin dependent proteolysis
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

component with PEX10 of a peroxisomal membrane complex

INTERACTION

DNA

RNA

small molecule

protein	PEX5
	PEX10
	PEX19 via its cytoplasmic domain

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PBD6

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS