Peripheral myelin protein 22 (Pmp22) Recombinant Protein | Pmp22 recombinant protein

Recombinant Mouse Peripheral myelin protein 22 (Pmp22)

• Gene Names: Pmp22; Tr; HNPP; 22kDa; Gas-3; trembler
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Peripheral myelin protein 22 (Pmp22); Recombinant Mouse Peripheral myelin protein 22 (Pmp22); Recombinant Peripheral myelin protein 22 (Pmp22); Peripheral myelin protein 22; PMP-22; Growth arrest-specific protein 3; GAS-3; Pmp22 recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 1-161
• Sequence: MLLLLLGILFLHIAVLVLLFVSTIVSQWLVGNGHTTDLWQNCTTSALGAVQHCYSSSVSEWLQSVQATMILSVIFSVLALFLFFCQLFTLTKGGRFYITGFFQILAGLCVMSAAAIYTVRHSEWHVNTDYSYGFAYILAWVAFPLALLSGIIYVILRKREL
• Sequence Length: 161

• Species: Mus musculus (Mouse)
• Preparation and Storage: Store at -20 degree C. For extended storage, store at -20 or -80 degree C.

NCBI and Uniprot Product Information

• NCBI GI #: 6679395
• NCBI GeneID: 18858
• NCBI Accession #: NP_032911.1
• NCBI GenBank Nucleotide #: NM_008885.2
• UniProt Accession #: P16646; Q91XF9
• Molecular Weight: 18,023 Da
• NCBI Official Full Name: peripheral myelin protein 22
• NCBI Official Synonym Full Names: peripheral myelin protein 22
• NCBI Official Symbol: Pmp22
• NCBI Official Synonym Symbols: Tr; HNPP; 22kDa; Gas-3; trembler
• NCBI Protein Information: peripheral myelin protein 22; PMP-22; growth arrest-specific protein 3; peripheral myelin protein, 22 kDa
• UniProt Protein Name: Peripheral myelin protein 22
• Protein Family: Peripheral myelin protein
• UniProt Gene Name: Pmp22
• UniProt Synonym Gene Names: Gas-3; Gas3; Pmp-22; PMP-22; GAS-3
• UniProt Entry Name: PMP22_MOUSE

Uniprot Description

PMP22: Might be involved in growth regulation, and in myelinization in the peripheral nervous system. Defects in PMP22 are the cause of Charcot-Marie-Tooth disease type 1A (CMT1A); also known as hereditary motor and sensory neuropathy IA. CMT1A is a form of Charcot-Marie- Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1A inheritance is autosomal dominant. Defects in PMP22 are a cause of Dejerine-Sottas syndrome (DSS); also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. Defects in PMP22 are a cause of hereditary neuropathy with liability to pressure palsies (HNPP); an autosomal dominant disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. Defects in PMP22 are the cause of Charcot-Marie-Tooth disease type 1E (CMT1E); also known as Charcot-Marie- Tooth disease and deafness autosomal dominant. CMT1E is an autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy. Defects in PMP22 may be a cause of inflammatory demyelinating polyneuropathy (IDP). IDP is a putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. Belongs to the PMP-22/EMP/MP20 family.

Protein type: Cell adhesion; Membrane protein, multi-pass; Cell cycle regulation; Membrane protein, integral

Cellular Component: compact myelin; tight junction; membrane; plasma membrane; integral to membrane

Biological Process: cell death; myelination; myelin formation; negative regulation of cell proliferation; bleb formation; cell cycle; cell differentiation; cell cycle arrest

Disease: Charcot-marie-tooth Disease, Demyelinating, Type 1a