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FLASH GENE

Symbol

PMP2

contributors: SGE/npt - updated : 31-05-2010

HGNC name	peripheral myelin protein 2
HGNC id	9117

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	8q21.13      Physical location : 82.352.563 - 82.359.719
Synonym name	myelin P2 protein
Synonym symbol(s)	MP2, FABP8, M-FABP, P2

DNA

TYPE	functioning gene
STRUCTURE	7.16 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002677 4 - 3579 NP_002668 - 132 - Hayasaka (1991)

EXPRESSION

Type

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 Nervous brain limbic system hippocampus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central white matter     Nervous peripherous

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to murine Pmp2 (87.1pc)
	homolog to rattus Pmp2 (90.2pc)

Homologene

FAMILY	calycin superfamily
	fatty-acid binding protein (FABP) family

CATEGORY

structural protein , transport

SUBCELLULAR LOCALIZATION

basic FUNCTION	potentially involved in the transport of fatty acids or metabolism of myelin lipids
	acting synergistically with MBP to cause stacking of lipid bilayers (Suresh 2010)
	lipid binding activity (Hayasaka 1991)
	may play a role in lipid transport protein in Schwann cells
	forms a beta-barrel structure that accomodates hydrophobic ligand in its interior

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	lipid transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism SNP	SNP at positions 220 and 445 (Besançon 2001)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS