Gene: CCDC39
Alternate names for this Gene: CFAP59|CILD14|FAP59
Gene Summary: The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14).
Gene is located in Chromosome: 3
Location in Chromosome : 3q26.33
Description of this Gene: coiled-coil domain containing 39
Type of Gene: protein-coding
rs773801386 in
CCDC39 gene and
CILIARY DYSKINESIA, PRIMARY, 14
PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
PMID 24498942 2014 The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
rs201780665 in
CCDC39 gene and
Ciliary Motility Disorders
PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.
PMID 24498942 2014 The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
PMID 22693295 2011 Umbilical bile staining in a patient with gall-bladder perforation.
PMID 21131972 2011 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.
PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
PMID 22693285 2012 Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.
PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
PMID 2325550 1990 Multinuclear NMR investigations of probe construction materials at 4.7 T.
rs12497997 in
CCDC39 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.