| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... |
cpath:CPATH-LOCAL-421678,
cpath:CPATH-LOCAL-421679,
cpath:CPATH-LOCAL-421680,
cpath:CPATH-LOCAL-421681,
cpath:CPATH-LOCAL-421682,
cpath:CPATH-LOCAL-421683,
cpath:CPATH-LOCAL-421684,
cpath:CPATH-LOCAL-421685,
cpath:CPATH-LOCAL-421686,
cpath:CPATH-LOCAL-421687,
cpath:CPATH-LOCAL-421688,
cpath:CPATH-LOCAL-421689,
cpath:CPATH-LOCAL-421690,
cpath:CPATH-LOCAL-427122
|
| http://www.biopax.org/relea... |
Myotubularin-related protein 13
|
| http://www.biopax.org/relea... |
MTMRD_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
SET-binding factor 2
|
| http://www.biopax.org/relea... |
SUBUNIT: Interacts with MTMR2. SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Note=Associated with membranes. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q86WG5-1; Sequence=Displayed; Name=3; IsoId=Q86WG5-3; Sequence=VSP_017157, VSP_017158; Note=No experimental confirmation available; TISSUE SPECIFICITY: Widely expressed. Expressed in spinal cord. DISEASE: Defects in SBF2 are the cause of Charcot-Marie-Tooth disease type 4B2 (CMT4B2) [MIM:604563]. CMT4B2 is a recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT 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. CMT4B2 is characterized by abnormal folding of myelin sheaths. SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily. SIMILARITY: Contains 1 dDENN domain. SIMILARITY: Contains 1 DENN domain. SIMILARITY: Contains 1 GRAM domain. SIMILARITY: Contains 1 myotubularin phosphatase domain. SIMILARITY: Contains 1 PH domain. SIMILARITY: Contains 1 uDENN domain. CAUTION: In contrast to other members of the family, it lacks a canonical protein-tyrosine phosphatase domain and lacks the conserved Cys residue in position 1410 which is replaced by a Leu residue. It therefore probably does not have phosphatase activity. WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SBF2"; GENE SYNONYMS: CMT4B2 KIAA1766 MTMR13. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
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