Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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Immunogen sequence: ALNLSVPRQRR RRRRKIEIEA ERAAKRRNLM EMVAQLRESQ VVSENGQEKV VDLSKASREA TSSTSNFSSL SSKFILPNVS TPVSDAFKTQ MEL
Highest antigen sequence identity to the following orthologs - mouse 97%, rat 98%.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: ATP-dependent helicase CHD7; CHARGE association; CHD-7; chromodomain helicase DNA binding protein 7 isoform CRA_e; Chromodomain-helicase-DNA-binding protein 7
Gene Aliases: CHD7; CRG; HH5; IS3; KAL5; KIAA1416
UniProt ID: (Human) Q9P2D1
Entrez Gene ID: (Human) 55636
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