PRX - periaxin Gene
Also Known as CMT4F
Species: Homo sapiens
About PRX
This gene has 30 transcripts (splice variants), 158 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in lung (RPKM 13.6), ovary (RPKM 2.9) and 16 other tissues.
Summary
This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
PRX Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001411127.1 | NP_001398056.1 | periaxin isoform 3 |
| NM_020956.2 | NP_066007.1 | periaxin isoform 1 |
| NM_181882.3 | NP_870998.2 | periaxin isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17474147 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
24633211 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
24633211 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
periaxin |
|
PRX Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PRX | Q9BXM0 | NCK1 | Homo sapiens | P16333 | 17474147 | |
|
Intra
|
PRX | Q9BXM0 | TERF2IP | Homo sapiens | Q9NYB0 | 21044950 | |
|
Intra
|
PRX | Q9BXM0 | TERF2IP | Homo sapiens | Q9NYB0 | 21044950 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
|
| Spinocerebellar Ataxia 46 |
|
|
| Peripheral Nervous System Disease |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Neuropathy |
|
|
| Polyneuropathy |
|
|
| Hereditary Neuropathies |
|
|
| Sensory Peripheral Neuropathy |
|
|
| Charcot-Marie-Tooth Disease And Deafness |
|
|
| Charcot-Marie-Tooth Disease, Type 4a |
|
|
| Tooth Disease |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2j |
|
|
| Charcot-Marie-Tooth Disease Dominant Intermediate A |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
|
|
| Charcot-Marie-Tooth Disease, Type 4b2 |
|
|
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
|
| Amyloidosis, Hereditary, Transthyretin-Related |
|
|
| Charcot-Marie-Tooth Disease, Type 4b1 |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2i |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
|
|
| Charcot-Marie-Tooth Disease, Type 4h |
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
|
| Neuromuscular Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | PRX | VGNC | VGNC:45079 |
| Macaca mulatta | PRX | VGNC | VGNC:76248 |
| Bos taurus | PRX | VGNC | VGNC:33430 |
| Rattus norvegicus | PRX | RGD | RGD:619960 |
| Mus musculus | PRX | MGD | MGI:108176 |
| Others | PRX | NCBI |