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Pmp22 - peripheral myelin protein 22 Gene

Also Known as Tr; HNPP; Gas-3; PMP-22; TRE002; trembler

Species: Mus musculus

Gene Type: protein coding

Gene ID: 18858

Summary

Enables cytoskeletal motor activity. Acts upstream of or within several processes, including nervous system development; regulation of apoptotic process; and regulation of gene expression. Located in several cellular components, including cell surface; compact myelin; and perinuclear region of cytoplasm. Part of Integrin complex and laminin complex. Is expressed in several structures, including alimentary system; intraembryonic coelom; lung; musculoskeletal system; and nervous system. Used to study Charcot-Marie-Tooth disease type 1A; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease type 3; and hereditary neuropathy with liability to pressure palsies. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); Guillain-Barre syndrome; and hereditary neuropathy with liability to pressure palsies. Orthologous to human PMP22 (peripheral myelin protein 22). [provided by Alliance of Genome Resources, Apr 2022]

Pmp22 Products (23)

mRNA	Protein	Name
NM_001302255.2	NP_001289184.1	peripheral myelin protein 22 isoform 1
NM_001302257.2	NP_001289186.1	peripheral myelin protein 22 isoform 1
NM_001302258.2	NP_001289187.1	peripheral myelin protein 22 isoform 1
NM_001302259.2	NP_001289188.1	peripheral myelin protein 22 isoform 1
NM_001302260.2	NP_001289189.1	peripheral myelin protein 22 isoform 1
NM_001302261.2	NP_001289190.1	peripheral myelin protein 22 isoform 2
NM_001404142.1	NP_001391071.1	peripheral myelin protein 22 isoform 1
NM_001404143.1	NP_001391072.1	peripheral myelin protein 22 isoform 1
NM_001404277.1	NP_001391206.1	peripheral myelin protein 22 isoform 3
NM_001404278.1	NP_001391207.1	peripheral myelin protein 22 isoform 4
NM_001404279.1	NP_001391208.1	peripheral myelin protein 22 isoform 2
NM_001404280.1	NP_001391209.1	peripheral myelin protein 22 isoform 2
NM_001404281.1	NP_001391210.1	peripheral myelin protein 22 isoform 2
NM_001404282.1	NP_001391211.1	peripheral myelin protein 22 isoform 2
NM_001404283.1	NP_001391212.1	peripheral myelin protein 22 isoform 2
NM_001404284.1	NP_001391213.1	peripheral myelin protein 22 isoform 2
NM_001404285.1	NP_001391214.1	peripheral myelin protein 22 isoform 2
NM_001404286.1	NP_001391215.1	peripheral myelin protein 22 isoform 2
NM_001404287.1	NP_001391216.1	peripheral myelin protein 22 isoform 2
NM_001404288.1	NP_001391217.1	peripheral myelin protein 22 isoform 2
NM_001404289.1	NP_001391218.1	peripheral myelin protein 22 isoform 2
NM_001404290.1	NP_001391219.1	peripheral myelin protein 22 isoform 2
NM_008885.4	NP_032911.1	peripheral myelin protein 22 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cytoskeletal motor activity	IMP IMP: Inferred from mutant phenotype	28108290	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	16436605	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within Schwann cell development	IMP IMP: Inferred from mutant phenotype	25429154	MGI
acts upstream of or within Schwann cell differentiation	IMP IMP: Inferred from mutant phenotype	14627652	MGI
acts upstream of or within Schwann cell migration	IMP IMP: Inferred from mutant phenotype	25429154	MGI
acts upstream of or within actin cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	25429154	MGI
acts upstream of or within adult locomotory behavior	IMP IMP: Inferred from mutant phenotype	12359155	MGI
acts upstream of or within adult walking behavior	IMP IMP: Inferred from mutant phenotype	12359155	MGI
acts upstream of or within aggresome assembly	IMP IMP: Inferred from mutant phenotype	15748170	MGI
acts upstream of or within autophagy	IMP IMP: Inferred from mutant phenotype	14627652	MGI
acts upstream of or within axon development	IMP IMP: Inferred from mutant phenotype	20071523	MGI
acts upstream of or within basement membrane organization	IMP IMP: Inferred from mutant phenotype	16436605	MGI
acts upstream of or within cell adhesion	IMP IMP: Inferred from mutant phenotype	25429154	MGI
acts upstream of or within cellular lipid metabolic process	IMP IMP: Inferred from mutant phenotype	22337502	MGI
acts upstream of or within cellular localization	IMP IMP: Inferred from mutant phenotype	15703401	MGI
acts upstream of or within cellular response to heat	IMP IMP: Inferred from mutant phenotype	23847051	MGI
acts upstream of or within cellular response to unfolded protein	IMP IMP: Inferred from mutant phenotype	23847051	MGI
acts upstream of or within cholesterol metabolic process	IMP IMP: Inferred from mutant phenotype	25429154	MGI
acts upstream of or within fibroblast migration	IMP IMP: Inferred from mutant phenotype	25429154	MGI
acts upstream of or within gliogenesis	IMP IMP: Inferred from mutant phenotype	14627652	MGI
acts upstream of or within immune response	IMP IMP: Inferred from mutant phenotype	22337502	MGI
acts upstream of or within lamellipodium assembly	IMP IMP: Inferred from mutant phenotype	25429154	MGI
acts upstream of or within mating	IMP IMP: Inferred from mutant phenotype	16436605	MGI
acts upstream of or within membrane raft organization	IMP IMP: Inferred from mutant phenotype	17971504	MGI
acts upstream of or within motor behavior	IMP IMP: Inferred from mutant phenotype	12359155	MGI
acts upstream of or within multicellular organism growth	IMP IMP: Inferred from mutant phenotype	16436605	MGI
acts upstream of or within muscle cell development	IMP IMP: Inferred from mutant phenotype	28108290	MGI
acts upstream of or within myelin assembly	IMP IMP: Inferred from mutant phenotype	16405874	MGI
acts upstream of or within myelination	IMP IMP: Inferred from mutant phenotype	20731761	MGI
acts upstream of or within myelination in peripheral nervous system	IGI IGI: Inferred from genetic interaction	20553714	MGI
acts upstream of or within myelination in peripheral nervous system	IMP IMP: Inferred from mutant phenotype	12359155	MGI
acts upstream of or within negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	23847051	MGI
acts upstream of or within neuromuscular junction development, skeletal muscle fiber	IMP IMP: Inferred from mutant phenotype	25014022	MGI
acts upstream of or within neuromuscular process	IMP IMP: Inferred from mutant phenotype	12359155	MGI
acts upstream of or within neuronal action potential	IMP IMP: Inferred from mutant phenotype	27583434	MGI
acts upstream of or within neuronal action potential propagation	IMP IMP: Inferred from mutant phenotype	20071523	MGI
acts upstream of or within neuronal ion channel clustering	IMP IMP: Inferred from mutant phenotype	15703401	MGI
acts upstream of or within paranodal junction assembly	IMP IMP: Inferred from mutant phenotype	16436605	MGI
acts upstream of or within peripheral nervous system development	IMP IMP: Inferred from mutant phenotype	2022965	MGI
acts upstream of or within peripheral nervous system neuron axonogenesis	IMP IMP: Inferred from mutant phenotype	12359155	MGI
acts upstream of or within positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	16436605	MGI
acts upstream of or within proteasomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	14627652	MGI
acts upstream of or within proteasome-mediated ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	15748170	MGI
acts upstream of or within regulation of Schwann cell proliferation	IMP IMP: Inferred from mutant phenotype	11673320	MGI
acts upstream of or within regulation of apoptotic signaling pathway	IMP IMP: Inferred from mutant phenotype	23847051	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	25429154	MGI
acts upstream of or within regulation of glial cell apoptotic process	IMP IMP: Inferred from mutant phenotype	11673320	MGI
acts upstream of or within regulation of inflammatory response	IMP IMP: Inferred from mutant phenotype	23847051	MGI
acts upstream of or within regulation of protein serine/threonine kinase activity	IMP IMP: Inferred from mutant phenotype	27583434	MGI
acts upstream of or within response to bacterium	IEP IEP: Inferred from expression pattern	23012479	MGI
acts upstream of or within response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	23847051	MGI
acts upstream of or within striated muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	16436605	MGI
acts upstream of or within transmission of nerve impulse	IGI IGI: Inferred from genetic interaction	20553714	MGI
acts upstream of or within transmission of nerve impulse	IMP IMP: Inferred from mutant phenotype	15363066	MGI
acts upstream of or within vestibular reflex	IMP IMP: Inferred from mutant phenotype	12359155	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	16436605	MGI
located in compact myelin	IDA IDA: Inferred from direct assay	11114256	MGI
part of integrin complex	IDA IDA: Inferred from direct assay	16436605	MGI
part of laminin complex	IDA IDA: Inferred from direct assay	16436605	MGI
located in membrane	IDA IDA: Inferred from direct assay	12359155	MGI
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	12359155	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
peripheral myelin protein 22	growth arrest-specific protein 3 peripheral myelin protein, 22 kDa

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-179114	VU0519975		/	Unkown
HY-RS10769	PMP22 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11482	PXMP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22756	Pxmp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Pmp22	NCBI	NCBI:5376