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.
Function:
May play a role in the formation or function of ciliated cells.
Tissue Specificity:
Highly expressed in the testis. Weakly expressed in pancreas, skeletal muscle and heart. Expression increases during ciliated cell differentiation.
Similarity:
Belongs to the DPCD family.
SWISS:
Q9BVM2
Gene ID:
25911
Database links:
Entrez Gene: 25911 Human
Entrez Gene: 516908 Cow
Entrez Gene: 477800 Dog
Entrez Gene: 226162 Mouse
Entrez Gene: 294004 Rat
SwissProt: Q24K21 Cow
SwissProt: Q9BVM2 Human
SwissProt: Q8BPA8 Mouse
SwissProt: Q6AYM4 Rat
Unigene: 658128 Human
Unigene: 21978 Mouse
Unigene: 50057 Rat
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