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