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 |
