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FLASH GENE

Symbol

PXMP3

contributors: - updated : 06-02-2006

HGNC name	peroxisomal membrane protein 3, 35kDa (Zellweger syndrome)
HGNC id	9717

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IRD8 infantile Refsum disease PBD12 peroxisomal biogenesis disorder, Zellweger spectrum ZWS3 Zellweger cerebrohepatorenal syndrome, variant type 3
Location	8q21.1      Physical location : -
Synonym name	peroxisomal assembly factor 2
	peroxin 2,complementation group 10 (KKI)
Synonym symbol(s)	PAF1, PMP35, PEX2, PMP3

DNA

TYPE	functioning gene
STRUCTURE	17.00 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (CAAT box)
	cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed - - - 1630 35 305 - Shimozawa - - - 2400 - - skeletal muscle, heart, pancreas -

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 Digestive esophagus       highly Endocrine neuroendocrine pituitary     highly   parathyroid       highly Urinary bladder       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	CH3-CH4 zinc finger domain
	integral membrane peroxisomal protein, with two putative transmembrane segments (2TM)
	seven cysteine residues at the C terminus

HOMOLOGY

interspecies

homolog to murine Pxmp3

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,peroxisome

basic FUNCTION

implicated in the biogenesis of peroxisomes

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	organelle,peroxisome

PATHWAY

metabolism

signaling

a component

protein constituent of peroxisomal membrane

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ZWS3 , IRD8 , PBD12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       Zellweger spectrum disorders: Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS