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Atlastin-3/ATL3  タンパク質

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Atlastin-3/ATL3 Related Area

Atlastin-3/ATL3 関連経路

    Atlastin-3/ATL3 サマリー & タンパク質情報

    Atlastin-3/ATL3 背景

    細胞内位置: 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.
    組織特異性: 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}.
    疾患関連性: 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.
    シーケンスの類似性: 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 代替名

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

    Atlastin-3/ATL3 関連研究

    注意:すべての製品は、"研究目的のみに使用するものであり、診断または治療目的に使用するものではありません"