InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PMP22

Summary

InnateDB Protein

IDBP-238521.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PMP22

Protein Name

peripheral myelin protein 22

Synonyms

CMT1A; CMT1E; DSS; GAS-3; HMSNIA; HNPP; Sp110;

Species

Homo sapiens

Ensembl Protein

ENSP00000379269

InnateDB Gene

IDBG-31486 (PMP22)

Protein Structure

UniProt Annotation

Function

Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:21827951}; Multi-pass membrane protein {ECO:0000269PubMed:21827951}.

Disease Associations

Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]: A 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. {ECO:0000269PubMed:10489052, ECO:0000269PubMed:10737979, ECO:0000269PubMed:11140841, ECO:0000269PubMed:11835375, ECO:0000269PubMed:12402337, ECO:0000269PubMed:12497641, ECO:0000269PubMed:1303281, ECO:0000269PubMed:15205993, ECO:0000269PubMed:8252046, ECO:0000269PubMed:8510709, ECO:0000269PubMed:8615087, ECO:0000269PubMed:8655153, ECO:0000269PubMed:8777804, ECO:0000269PubMed:9040744}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. 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. {ECO:0000269PubMed:10211478, ECO:0000269PubMed:10663978, ECO:0000269PubMed:11438991, ECO:0000269PubMed:12090401, ECO:0000269PubMed:7675244, ECO:0000269PubMed:7728152, ECO:0000269PubMed:8252046, ECO:0000269PubMed:8275092, ECO:0000269PubMed:8995589, ECO:0000269PubMed:9004143, ECO:0000269PubMed:9055797, ECO:0000269PubMed:9187667, ECO:0000269PubMed:9452053, ECO:0000269PubMed:9544841, ECO:0000269PubMed:9585367, ECO:0000269PubMed:9633821}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500]: A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. {ECO:0000269PubMed:12796555, ECO:0000269PubMed:9748013}. Note=The disease is caused by mutations affecting the gene represented in this entry.Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy. {ECO:0000269PubMed:10330345, ECO:0000269PubMed:11835375, ECO:0000269PubMed:12578939, ECO:0000269PubMed:15099592}. Note=The disease is caused by mutations affecting the gene represented in this entry.Inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]: Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. {ECO:0000269PubMed:12439896}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.