WP5400 - 6q16 copy number variation - Homo sapiens
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SIM1 is the only gene found in the region 6q12 (chr6:100,836,750-100,911,811). A deletion or loss of function results in developmental delay and neuropsyschiatric disorders as well as severe obesity. SIM1 is a transcription factor responsible for several processes in neurogenesis and is stimulated by the leptin-melanocortin pathway.
创建时间:
2025-04-17



