UNIPROT #

Q01453

PROTEIN NAME

PMP22

SYNONYMS

CMT1A antibody; CMT1E antibody; DSS antibody; GAS-3 antibody; GAS3 antibody; Growth Arrest Specific 3 antibody; Growth arrest-specific protein 3 antibody; HMSNIA antibody; HNPP antibody; MGC20769 antibody; Peripheral myelin protein 22 antibody; PMP-22 antibody; PMP22 antibody; PMP22_HUMAN antibody; Sp110 antibody; Trembler antibody

SEQUENCE SIMILARITIES

Belongs to the PMP-22/EMP/MP20 family.

SUBCELLULAR LOCATION

Cell membrane.

FUNCTION

PLP (myelin proteolipid protein or lipophilin) is a major constituent of myelin. The two isoforms of the myelin proteolipid protein, PLP and DM20, are very hydrophobic integral membrane proteins that account for about half of the protein content of adult CNS myelin. A mutation in the gene which encodes PLP is linked to Pelizaeus-Merzbacher disease (PMD), a chronic infantile type of diffuse cerebral sclerosis. The gene which encodes PLP maps to human chromosome Xq13-q22. The glycoprotein zero (also designated P-zero or myelin peripheral protein) is the major structural protein of peripheral myelin, accounting for more than 50% of the protein present in the sheath of peri-pheral nerves. Zero is an integral membrane glycoprotein whose expression is restricted to Schwann cells. The gene which encodes zero maps to human chromosome 1q22. PMP22 (peripheral myelin protein 22) is a growth-regulated membrane protein which is expressed by Schwann cells and is localized mainly in compact peripheral nervous system myelin. The gene which encodes PMP22 maps to human chromosome 17p11.2.