background:
Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly.
Tissue specificity:Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis.
Involvement in disease:
Defects in CCDC39 are the cause of primary ciliary dyskinesia type 14 (CILD14) . A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Function:
Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly.
Subcellular Location:
Cytoplasm, cytoskeleton, cilium axoneme. Note=CCDC40 is required for localization to axonemes.
Tissue Specificity:
Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis.
DISEASE:
Defects in CCDC39 are the cause of primary ciliary dyskinesia type 14 (CILD14) [MIM:62767]. A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Similarity:
Belongs to the CCDC39 family.
Database links:
Entrez Gene: 417689 Dog
Entrez Gene: 339829 Human
Entrez Gene: 51938 Mouse
Omim: 613798 Human
SwissProt: E2R1I5 Dog
SwissProt: Q9UFE4 Human
SwissProt: Q9D5Y1 Mouse
Unigene: 712820 Human
Unigene: 474546 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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