Gene: [21q223/WRB] tryptophan rich basic protein (nuclear?); congenital heart disease 5 protein (CHD5 protein); congenital heart disease, CHD5-associated; [CHD5 ]

COM	The WRB/CHD5 cDNA was identified during analysis of over 300 fetal heart and cultured cardiac fibroblast cDNAs from Chr 21q22.3. The mapping of WRB/CHD5 to Chr 21q22.3, between ACTL5 (GEM:21q/ACTL5) and HMG-14 (GEM:21q223/HMG14), was confirmed by analysis of genomic clones from that region and somatic cell hybrids (Egeo-1998)."
MOP	The WRB/CHD5 gene encodes a basic protein of unknown function containing a tryptophan-rich carboxyl-terminal region and a potential nuclear localization signal (Egeo-1998)."
PAT	Congenital heart disease affects over 40% of Down syndrome (see GEM:21q223/DCR) patients (Egeo-1998)."
REF	COD,SEQ,LOC,EXP "Egeo A &: Hum Genet, 102, 289-293, 1998
SWI	SWISSPROT: O00258
KEY	card
CLA	coding, basic
LOC	21 q22.3
MIM	MIM: 602915
SYN	CHD5