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- Table of Contents
Facts about Myotubularin-related protein 13.
.
Human | |
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Gene Name: | SBF2 |
Uniprot: | Q86WG5 |
Entrez: | 81846 |
Belongs to: |
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protein-tyrosine phosphatase family |
Myotubularin-related protein 13
Mass (kDA):
208.464 kDA
Human | |
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Location: | 11p15.4 |
Sequence: | 11; NC_000011.10 (9778667..10294207, complement) |
Widely expressed. Expressed in spinal cord.
Cytoplasm. Cytoplasm, perinuclear region. Membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Cell projection, axon. Associated with membranes (PubMed:15998640). Localizes to vacuoles in hypo-osmotic conditions (By similarity). Membrane localization is likely to be mediated via its interaction with MTMR2 (By similarity).
PMID: 12554688 by Senderek J., et al. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
PMID: 12687498 by Azzedine H., et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.