Gene Symbol | CHD7 |
Entrez Gene ID | 55636 |
Full Name | chromodomain helicase DNA binding protein 7 |
Synonyms | CRG,HH5,IS3,KAL5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | CHARGE syndrome, 214800 (3); Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3) |