Entity Details

Primary name PRAX_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BXM0
EntryNamePRAX_HUMAN
FullNamePeriaxin
TaxID9606
Evidenceevidence at protein level
Length1461
SequenceStatuscomplete
DateCreated2002-04-16
DateModified2021-06-02

Ontological Relatives

GenesPRX

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0007399 nervous system development
GO:0008366 axon ensheathment
GO:0030054 cell junction
GO:0032287 peripheral nervous system myelin maintenance
GO:0043484 regulation of RNA splicing

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR001478 PDZ domainDomainDomain
IPR036034 PDZ superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
145900 OMIMDejerine-Sottas syndrome (DSS)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. The disease is caused by variants affecting the gene represented in this entry.
614895 OMIMCharcot-Marie-Tooth disease 4F (CMT4F)A recessive 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. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome. The disease is caused by variants affecting the gene represented in this entry.