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Atlastin-3/ATL3  Protein

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Atlastin-3/ATL3 Related Area

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    Atlastin-3/ATL3 Summary & Protein Information

    Atlastin-3/ATL3 Background

    Subcellular location: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:24459106}; Multi-pass membrane protein {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:24459106}. Note=Localizes to endoplasmic reticulum tubules and accumulates in punctuate structures corresponding to 3-way junctions, which represent crossing-points at which the tubules build a polygonal network.
    Tissue specificity: Expressed in the central nervous system and in dorsal root ganglia neurons. Expressed in peripheral tissues (at protein level). {ECO:0000269|PubMed:18270207, ECO:0000269|PubMed:24459106}.
    Involvement in disease: DISEASE: Neuropathy, hereditary sensory, 1F (HSN1F) [MIM:615632]: An autosomal dominant sensory neuropathy affecting the lower limbs. Distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation. There is no autonomic involvement, spasticity, or cognitive impairment. {ECO:0000269|PubMed:24459106}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily. {ECO:0000305}.; Contains 1 GB1/RHD3-type G (guanine nucleotide-binding) domain. {ECO:0000305}.
    General information above from UniProt

    Atlastin-3/ATL3 Alternative Name

    HSN1F, [homo-sapiens]
    HSN1F, [Human]
    4633402C03Rik,5730596K20Rik,AI465397,AW228836, [mouse]
    AI465397,AW228836,4633402C03Rik,5730596K20Rik, [mus-musculus]

    Atlastin-3/ATL3 Related Studies

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