CCDC78 coiled-coil domain containing 78

Gene ID: 124093, updated on 19-Sep-2024
Gene type: protein coding
Also known as: CNM4; JFP10; C16orf25; hsCCDC78

Summary

Involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation and skeletal muscle contraction. Located in several cellular components, including centriole; deuterosome; and sarcolemma. Implicated in centronuclear myopathy 4. [provided by Alliance of Genome Resources, Apr 2022]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Congenital myopathy with internal nuclei and atypical cores MedGen: C4707232OMIM: 614807GeneReviews: Not available	See labs

Genomic context

Location:: 16p13.3

Sequence:: Chromosome: 16; NC_000016.10 (722582..726880, complement)

Total number of exons:: 12

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CCDC78 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CCDC78 homepage - Leiden Muscular Dystrophy pages
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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