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Chromodomain helicase DNA binding protein 7 (CHD7) is a gene located on chromosome 8q12.2 that encodes a member of the chromodomain helicase DNA-binding (CHD) family, which plays a pivotal role in chromatin remodeling and gene expression regulation. CHD7 contains multiple domains that facilitate its involvement in modifying chromatin structure, thereby influencing the accessibility of DNA for transcription factors and other regulatory proteins. The protein is integral to various developmental processes, including neural crest formation, thus affecting tissues such as the nervous system, skeletal structures, and sensory organs. Mutations in CHD7 are associated with CHARGE syndrome, a multisystem disorder characterized by congenital anomalies including coloboma, heart defects, and ear abnormalities. CHD7's role in chromatin dynamics makes it crucial for normal embryonic development and cellular differentiation. Ongoing research is focused on uncovering CHD7's broader implications in developmental biology and its potential as a therapeutic target in chromatin-related disorders.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: ATP-dependent helicase CHD7; CHARGE association; CHD-7; chromodomain helicase DNA binding protein 7 isoform CRA_e; Chromodomain-helicase-DNA-binding protein 7
基因别名: A730019I05Rik; CHD7; CRG; Cycn; Cyn; Dz; Edy; Flo; GENA 47; Gena 52; GENA 60; HH5; IS3; KAL5; KIAA1416; Lda; metis; Mt; Obt; Todo; WBE1; Whi
UniProt ID: (Human) Q9P2D1, (Mouse) Q3TA86
Entrez Gene ID: (Human) 55636, (Mouse) 320790