基因名:
DPCD
产品别名:
DPCD; deleted in primary ciliary dyskinesia homolog (mouse); deleted in primary ciliary dyskinesia homolog (mouse); protein DPCD; RP11-529I10.4; deleted in a mouse model of primary ciliary dyskinesia; 原发性纤毛运动障碍相关蛋白DPCD;
背景信息:
DPCD is a 203 amino acid protein that is expressed at higher levels during ciliated cell differentiation, suggesting that DPCD plays a role in the function or formation of ciliated cells. In primary ciliary dyskinesia (PCD), an autosomal recessive disease that is caused by mutations affecting the proper function of cilia, an exon in the DPCD gene is deleted. The phenotype of PCD is variable, though it may include symptoms such as sinus inverse totalis, infertility or otitis media. In severe cases, patients develop end-stage bronchiectasis and require a lung transplantation. DPCD is highly expressed in testis, with weak expression in heart, pancreas and skeletal muscle.