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- Table of Contents
Facts about Aladin.
Human | |
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Gene Name: | AAAS |
Uniprot: | Q9NRG9 |
Entrez: | 8086 |
Belongs to: |
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No superfamily |
AAA; AAASb; achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A); achalasia, adrenocortical insufficiency, alacrimia; ADRACALA; Adracalin; ALADIN; Allgrove, triple-A; DKFZp586G1624
Mass (kDA):
59.574 kDA
Human | |
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Location: | 12q13.13 |
Sequence: | 12; NC_000012.12 (53307456..53321610, complement) |
Widely expressed (PubMed:11159947, PubMed:16022285). Particularly abundant in cerebellum, corpus callosum, adrenal gland, pituitary gland, gastrointestinal structures and fetal lung (PubMed:11159947).
Nucleus, nuclear pore complex. Cytoplasm, cytoskeleton, spindle pole. In metaphase cells localizes within the spindle with some accumulation around spindle poles, with the highest concentration between the centrosome and metaphase plate (PubMed:26246606). The localization to the spindle is microtubule-mediated (PubMed:26246606).
PMID: 11062474 by Tullio-Pelet A., et al. Mutant WD-repeat protein in triple-A syndrome.
PMID: 11159947 by Handschug K., et al. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.