NP_060250.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
101,085 Da
NCBI Official Full Name
chromodomain-helicase-DNA-binding protein 7 isoform 1
NCBI Official Synonym Full Names
chromodomain helicase DNA binding protein 7
NCBI Protein Information
chromodomain-helicase-DNA-binding protein 7
UniProt Protein Name
Chromodomain-helicase-DNA-binding protein 7
UniProt Synonym Protein Names
ATP-dependent helicase CHD7
UniProt Synonym Gene Names
UniProt Entry Name
CHD7_HUMAN
NCBI Summary for CHD7
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
UniProt Comments for CHD7
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.
Protein type: Nucleolus; Helicase; DNA-binding; EC 3.6.4.12
Chromosomal Location of Human Ortholog: 8q12.2
Cellular Component: nucleolus; nucleus
Molecular Function: ATP binding; chromatin binding; helicase activity; protein binding
Biological Process: adult heart development; adult walking behavior; artery morphogenesis; blood circulation; central nervous system development; chromatin modification; cognition; 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; regulation of growth hormone secretion; regulation of neurogenesis; regulation of transcription, DNA-dependent; retina development in camera-type eye; rRNA processing; semicircular canal morphogenesis; sensory perception of sound; skeletal development; T cell differentiation; transcription, DNA-dependent
Disease: Charge Syndrome; Hypogonadotropic Hypogonadism 5 With Or Without Anosmia; Tracheoesophageal Fistula With Or Without Esophageal Atresia
Research Articles on CHD7
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Products associated with CHD7 blocking peptide
Pathways associated with CHD7 blocking peptide
Diseases associated with CHD7 blocking peptide
Organs/Tissues associated with CHD7 blocking peptide
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