CHD7

chromodomain helicase DNA binding protein 7

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000171316
UniProt:
Q9P2D1
OMIM:
608892
Synonyms:
CRG, FLJ20357, FLJ20361, KIAA1416

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal locomotor activation, decreased body weight, preweaning lethality, complete penetrance, increased circulating glucose level
Human ciliopathy phenotype:
hypogonadotropic hypogonadism 5 with or without anosmia

Ciliopathy associations

  • Kallmann Syndrome

References: PMID:21856375, PMID:36138264, PMID:39596130, PMID:20362962, PMID:23368665

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly
  • Metabolism
  • Neurogenesis & migration
  • Cardiac & muscle development

Function

Mutations in the CHD7 gene cause Kallmann syndrome (PMID: 21856375).