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    Adracalin サマリー & タンパク質情報

    Adracalin 背景

    サブユニット構造: Interacts with NDC1, the interaction is required for nuclear pore localization. {ECO:0000269|PubMed:19782045}.
    細胞内位置: Nucleus, nuclear pore complex {ECO:0000269|PubMed:19782045}.
    組織特異性: Widely expressed. Particularly abundant expression is found in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung. {ECO:0000269|PubMed:16022285}.
    疾患関連性: DISEASE: Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]: An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present. {ECO:0000269|PubMed:11159947}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    シーケンスの類似性: Contains 7 WD repeats. {ECO:0000255|PROSITE-ProRule:PRU00221}.
    General information above from UniProt

    Adracalin 代替名

    AAA,AAASb,GL003,ALADIN,ADRACALA,ADRACALIN, [homo-sapiens]
    AAA,GL003,ADRACALA,D030041N15Rik, [mus-musculus]

    Adracalin 関連研究

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