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PMP22 peripheral myelin protein 22 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000304 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
NM_153321 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10
NM_153322 Homo sapiens peripheral myelin protein 22 (PMP22), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

*Business Day

Related Services

Gene Symbol PMP22
Entrez Gene ID 5376
Full Name peripheral myelin protein 22
Synonyms CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, MGC20769, Sp110
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17p12

Summary This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. [provided by RefSeq, Jul 2008].
Disorder

MIM: 601097

Charcot-Marie-Tooth disease, type 1A, 118220 (3); Dejerine-Sottas

mRNA Protein Product Sequence Price Select
NM_000304, 24430161 NP_000295, 4505907 peripheral myelin protein 22 ORF Sequence $159.00
NM_153321, 24430162 NP_696996, 24430163 peripheral myelin protein 22 ORF Sequence $159.00
NM_153322, 24430164 NP_696997, 24430165 peripheral myelin protein 22 ORF Sequence $159.00
WikiPathways
WP2064Neural Crest Differentiation
Pathway Interaction Database
a6b1_a6b4_integrin_pathwaya6b1 and a6b4 Integrin signaling
Homo sapiens (human)PMP22NP_000295.1
Pan troglodytes (chimpanzee)PMP22XP_001162361.1
Macaca mulatta (Rhesus monkey)PMP22XP_001082619.1
Canis lupus familiaris (dog)PMP22XP_003434676.1
Bos taurus (cattle)PMP22NP_001094626.1
Mus musculus (house mouse)Pmp22NP_032911.1
Rattus norvegicus (Norway rat)Pmp22NP_058733.1
Gallus gallus (chicken)PMP22XP_001231973.1
Danio rerio (zebrafish)pmp22bNP_001035445.1
GeneCards PMP22
UniProt Q6FH25, Q01453
MIM 601097
Ensembl ENSG00000109099
HGNC 9118
HPRD 03059

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
peripheral myelin protein 22
Names
peripheral myelin protein 22
growth arrest-specific protein 3

Interactant



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