CHD7 Products

Description

Human CHD7 is a chromodomain helicase DNA-binding protein and mutations in the CHD7 gene are a major cause of CHARGE syndrome. CHARGE syndrome is a well characterized multiple-malformation syndrome with distinctive diagnostic critera. Anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation.

Bioinformatics

Entrez	312974 Rat 320790 Mouse 55636 Human
Uniprot	A2AJK6 Mouse NP_060250 Human NP_060250.2 Human Q9P2D1 Human
Product By Gene ID	55636
Alternate Names	ATP-dependent helicase CHD7 CHD-7 chromodomain helicase DNA binding protein 7 isoform CRA_e chromodomain helicase DNA binding protein 7 chromodomain-helicase-DNA-binding protein 7 EC 3.6.1 EC 3.6.4.12 FLJ20357 FLJ20361 IS3 KIAA1416KAL5

Research Areas for CHD7

Find related products by research area and learn more about each of the different research areas below.

Transcription Factors and Regulators