CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7
- OMIM 608892
- Located at chromosome 8q12.2
- Encodes the chromodomain helicase DNA binding protein 7
- CHD7 is a transcriptional regulator that binds to enhancer elements in the nucleoplasm.
- CHD7 also functions as a positive regulator of ribosomal RNA (rRNA) biogenesis in the nucleolus (Zentner, Hurd et al. 2010).
- CHD7 comprises 38 exons and the corresponding mRNA (NM_017780.3) encodes a 2997 amino acid protein, CHD7.
- Kim et al. (2008) analyzed CHD7 in 197 patients with Kallmann syndrome (KS) or normosmic congenital hypogonadotropic hypogonadism (nCHH), and identified different heterozygous mutations in 7 patients, 3 with KS and 4 with nCHH (Kim, Kurth et al. 2008).
- Two mutations had previously been found in CHARGE syndrome patients.
- Kim et al. (2008) concluded that both KS and nCHH due to mutations in CHD7 are mild phenotypic variants of CHARGE syndrome (Kim, Kurth et al. 2008).
Kim, H. G., I. Kurth, et al. (2008). "Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome." Am J Hum Genet83(4): 511-519.
Zentner, G. E., E. A. Hurd, et al. (2010). "CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis." Hum Mol Genet19(18): 3491-3501.