Peripheral myelin protein 22

Interactor Gene Name:
PMP22
Interactor protein name:
Peripheral myelin protein 22
Uniprot ID:
Q01453
Identifed in (species):
Human
Cell Type/ Tissue:
HEK library
Receptor (species):
Rat
Interactor (species):
Human
Experimental System:
Transgenic co-expression
Detection Method:
GST pull-down assay
Interaction Domain (P2X7):
C-terminus 356-595
Experimental Confirmation:
co-purification His-tag
Published (year):
2002
Publication (PubMed):
Wilson HL (2002)
Sequence:
NCBI Gene
Expression Profile:
EMBL-EBI Expression Atlas
Disease Pathways:
OMIM; GAD

PMP22 belongs to the peripheral myelin protein 22 (PMP22) family (together with EMP-1, EMP-2 and EMP-3), which are tetraspan transmembrane proteins.

PMP-22 is major component of myelin in the peripheral nervous system. Mutations of the PMP22 gene are responsible for several forms of hereditary peripheral neuropathies, including Charcot-Marie-Tooth type-1A, hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas syndrome (DDS).