PMP22
PMP22 (peripheral myelin protein 22) is an integral membrane protein and a major component of myelin in the peripheral nervous system. It is also known as HNPP, GAS3, Sp110, HMSNIA and CMT1A, and is linked to several inherited neuropathies. Browse Assay Genie's current range of PMP22 research reagents below, or read on for the biology behind the target.
PMP22 is an integral membrane protein found at the cell membrane and is a major component of myelin in the peripheral nervous system. UniProt annotates it as possibly involved in growth regulation and in myelinization in the peripheral nervous system. The protein belongs to the PMP-22/EMP/MP20 family, which makes it a useful reference point when comparing related membrane proteins in myelin biology.
The PMP22 gene is regulated by two alternately used promoters, which studies suggest drive tissue-specific expression. Alternative splicing of the gene produces multiple transcript variants. The rat ortholog is Pmp22, and the mouse ortholog listed in the data is Pxmp2. Researchers working across species should confirm that a given reagent recognises the intended ortholog.
The gene symbol and aliases reflect its disease associations and its history. PMP22 was previously named Charcot-Marie-Tooth neuropathy 1A, also called hereditary motor sensory neuropathy Ia, which accounts for the aliases CMT1A and HMSNIA. HNPP refers to hereditary neuropathy with liability to pressure palsies. GAS3 and Sp110 are further names for the same gene. Various mutations in PMP22 cause Charcot-Marie-Tooth disease type IA, Dejerine-Sottas syndrome and hereditary neuropathy with liability to pressure palsies. For this reason it is studied widely in peripheral nerve research. HGNC places the gene in the group of microRNA protein coding host genes.
Mutations in PMP22 cause Charcot-Marie-Tooth disease type IA, Dejerine-Sottas syndrome and hereditary neuropathy with liability to pressure palsies.
PMP22 is a major component of peripheral nervous system myelin and may be involved in myelinization.
UniProt notes a possible role for PMP22 in growth regulation, in line with its alias GAS3.
Two alternately used promoters and alternative splicing give PMP22 tissue-specific expression and multiple transcript variants.
PMP22 is an integral membrane protein and a major component of myelin in the peripheral nervous system. UniProt states that it might be involved in growth regulation and in myelinization. Its exact molecular function is not fully defined in the source annotation.
PMP22 is also called HNPP, GAS3, Sp110, HMSNIA and CMT1A. Its previous name was Charcot-Marie-Tooth neuropathy 1A, also known as hereditary motor sensory neuropathy Ia. Alternative splicing gives multiple transcript variants of the gene.
Various PMP22 mutations cause Charcot-Marie-Tooth disease type IA, Dejerine-Sottas syndrome and hereditary neuropathy with liability to pressure palsies. The rat ortholog is Pmp22; check the datasheet of any product for its validated reactivity.
Other myelin-associated proteins relevant to peripheral nerve research.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q01453; product specifications from Assay Genie datasheets.