WP5409 - PAFAH1B1 copy number variation - Homo sapiens
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PAFAH1B1 located on chromosome 17p13.3 (exact position chr17:2496923-2588909, GRCh37, position from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022) is responsible for the rare genetic disorder Miller-Dieker syndrome (MIM # 247200). The most common symptom is lisencephaly causing severe intellectual disability, cardiac and facial dysmorphic features. The protein is part of the type I platelet-activating factor acetylhydrolase and involved in stabilising dynein binding to microtubules.
创建时间：
2025-04-17
