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
NCBI Official Synonym Full Names
chromodomain helicase DNA binding protein 7
NCBI Protein Information
chromodomain-helicase-DNA-binding protein 7; CHARGE association; ATP-dependent helicase CHD7; chromodomain helicase DNA binding protein 7 isoform CRA_e
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. [provided by RefSeq, Jul 2008]
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: DNA-binding; EC 3.6.4.12; Helicase; Nucleolus
Chromosomal Location of Human Ortholog: 8q12.2
Cellular Component: nucleoplasm; nucleolus; nucleus
Molecular Function: protein binding; DNA binding; chromatin binding; helicase activity; ATP binding
Biological Process: limb development; heart morphogenesis; central nervous system development; olfactory behavior; blood circulation; palate development; positive regulation of multicellular organism growth; regulation of growth hormone secretion; adult walking behavior; embryonic hindlimb morphogenesis; olfactory nerve development; female genitalia development; regulation of neurogenesis; sensory perception of sound; regulation of transcription, DNA-dependent; skeletal development; T cell differentiation; adult heart development; inner ear morphogenesis; transcription, DNA-dependent; in utero embryonic development; olfactory bulb development; cranial nerve development; semicircular canal morphogenesis; chromatin modification; genitalia development; retina development in camera-type eye; artery morphogenesis; cognition; nose development; rRNA processing
Disease: Charge Syndrome; Tracheoesophageal Fistula With Or Without Esophageal Atresia; Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Research Articles on CHD7
Precautions
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Products associated with CHD7 elisa kit
Pathways associated with CHD7 elisa kit
Diseases associated with CHD7 elisa kit
Organs/Tissues associated with CHD7 elisa kit
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