Atlastin-3/ATL3  단백질

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    Atlastin-3/ATL3 요약 및 단백질 정보

    Atlastin-3/ATL3 배경

    세포하 위치: 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.
    조직 특이성: 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}.
    질병과의 관련성: 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.
    염기서열 유사성: 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 대체 이름

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

    Atlastin-3/ATL3 관련 연구

    주의 : 모든 제품은 "연구 목적만을 위한 것이며 진단이나 치료에 사용하도록 의도되지 않았습니다".