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PRX
Seems to be required for maintenance of peripheral nerve myelin sheath. May have a role in axon-glial interactions, possibly by interacting with the cytoplasmic domains of integral membrane proteins such as myelin-associated glycoprotein in the periaxonal regions of the Schwann cell plasma membrane. May have a role in the early phases of myelin deposition. Defects in PRX are a cause of Dejerine-Sottas syndrome (DSS); also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. DSS is 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. Belongs to the periaxin family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
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| Protein type: Cell surface |
| Chromosomal Location of Human Ortholog: 19q13.2 |
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Cellular Component:
cell junction; cytoplasm; nucleus
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Molecular Function:
protein binding
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Biological Process:
axon ensheathment
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Disease: Charcot-marie-tooth Disease, Demyelinating, Type 4f; Hypertrophic Neuropathy Of Dejerine-sottas
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Reference #:
Q9BXM0
(UniProtKB)
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Alt. Names/Synonyms: CMT4F; KIAA1620; Periaxin; PRAX; PRX
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Gene Symbols: PRX
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Molecular weight:
154,905 Da
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Basal Isoelectric point:
7.22
Predict pI for various phosphorylation states
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