PMP2
entrez
5375
canonical
uniprot
P02689
canonical
ensembl
ENSG00000147588
resolver
ensp
ENSP00000256103
resolver
ensp
ENSP00000429917
resolver
enst
ENST00000256103
resolver
enst
ENST00000519260
resolver
genesymbol
PMP2
resolver
hgnc
HGNC:9117
resolver
uniprot
E5RH45
resolver
uniprot
Q6FHL4
resolver
uniprot_entry
E5RH45_HUMAN
resolver
uniprot_entry
MYP2_HUMAN
resolver
uniprot_sec
Q6FHL4
resolver
amino_acid_sequence
MSNKFLGTWKLVSSENFDDYMKALGVGLATRKLGNLAKPTVIISKKGDIITIRTESTFKNTEISFKLGQEFEETTADNRKTKSIVTLQRGSLNQVQRWDGKETTIKRKLVNGKMVAECKMKGVVCTRIYEKV
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, demyelinating, type 1G (CMT1G) [MIM:618279]: An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies 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. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade. {ECO:0000269|PubMed:26257172, ECO:0000269|PubMed:26828946, ECO:0000269|PubMed:27009151, ECO:0000269|PubMed:30249361}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in lipid transport protein in Schwann cells. May bind cholesterol. {ECO:0000269|PubMed:20421974}.
uniprot
proteins
mass_dalton
14909
uniprot
proteins
protein_family
Calycin superfamily
uniprot
proteins
protein_family
Fatty-acid binding protein (FABP) family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
1720307
uniprot
proteins
pubmed
20421974
uniprot
proteins
pubmed
26257172
uniprot
proteins
pubmed
26828946
uniprot
proteins
pubmed
27009151
uniprot
proteins
pubmed
30249361
uniprot
proteins
pubmed
6183401
uniprot
proteins
pubmed
7525873
uniprot
proteins
sequence_length
132
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
uniprot
proteins