CHD7 chromodomain helicase DNA binding protein 7 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 55636)
Source: NCBI Gene (ID 55636)
Symbol: CHD7
Full name: chromodomain helicase DNA binding protein 7
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: CRG; HH5; IS3; KAL5
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]
Expression: Ubiquitous expression in bone marrow (RPKM 6.4), brain (RPKM 4.0) and 25 other tissues
Orthologs: mouse
Gene size: 189289bp
Exon count: 42