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CHD-7 Probable transcription regulator. May interact with CTCF. Interacts with CHD8. Widely expressed in fetal and adult tissues. Belongs to the SNF2/RAD54 helicase family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; EC; Helicase; Nucleolus
Chromosomal Location of Human Ortholog: 8q12.2
Cellular Component: nucleolus; nucleus
Molecular Function: ATP binding; chromatin binding; helicase activity; promoter-specific chromatin binding; protein binding
Biological Process: adult heart development; adult walking behavior; blood circulation; blood vessel remodeling; central nervous system development; chromatin remodeling; cognition; covalent chromatin modification; cranial nerve development; embryonic hindlimb morphogenesis; female genitalia development; genitalia development; heart morphogenesis; in utero embryonic development; inner ear morphogenesis; limb development; nose development; olfactory behavior; olfactory bulb development; olfactory nerve development; palate development; positive regulation of multicellular organism growth; positive regulation of transcription from RNA polymerase II promoter; regulation of growth hormone secretion; regulation of neurogenesis; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; regulation of transcription, DNA-templated; retina development in camera-type eye; right ventricular compact myocardium morphogenesis; rRNA processing; semicircular canal morphogenesis; sensory perception of sound; skeletal system development; T cell differentiation; transcription, DNA-dependent; ventricular trabecula myocardium morphogenesis
Disease: Charge Syndrome; Hypogonadotropic Hypogonadism 5 With Or Without Anosmia; Tracheoesophageal Fistula With Or Without Esophageal Atresia
Reference #:  Q9P2D1 (UniProtKB)
Alt. Names/Synonyms: ATP-dependent helicase CHD7; CHD-7; CHD7; chromodomain helicase DNA binding protein 7; chromodomain helicase DNA binding protein 7 isoform CRA_e; Chromodomain-helicase-DNA-binding protein 7; FLJ20357; FLJ20361; IS3; KAL5; KIAA1416
Gene Symbols: CHD7
Molecular weight: 335,927 Da
Basal Isoelectric point: 5.95  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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