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Gene ID: 124093 | CCDC78 Antibody Resource


CCDC78 Antibody Resource
Gene Full Name: 
coiled-coil domain containing 78
Uniprot: 
A2IDD5
Protein Name: 
coiled-coil domain-containing protein 78
Nucleotide: 
XM_005255107
Alias: 
CNM4;JFP10;C16orf25;hsCCDC78;
Ensembl: 
ENSG00000162004
Location: 
16p13.3
HPRD: 
08174
NCBI Gene: 
124093
MIM: 
614666

Summary: 
The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
Function: 
Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome.
Subcellular location: 
Cytoplasm › cytoskeleton › microtubule organizing center › centrosome › centriole. Cytoplasm › perinuclear region. Cell membrane › sarcolemma. Sarcoplasmic reticulum. Note: Localizes to centrioles and deuterosome. Found primarily in the perinuclear region as well as along the sarcolemmal membrane and in reticular pattern within the sarcoplasm.
PTM: 
Disease: 
Myopathy, centronuclear, 4 (CNM4) [MIM:614807]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Note: The disease is caused by mutations affecting the gene represented in this entry.
Biotechnological use: 

Antibodies
TypeCatalogNameClonalitySpecies ReactivityApplicationSizePriceMore Info
Polyclonal Antibody ARP53233_P050 CCDC78 antibody - middle region (ARP53233_P050) Polyclonal Human WB 50ug $289 Details
Polyclonal Antibody OAAB00339 CCDC78 antibody - C-terminal region (OAAB00339) Human WB, ELISA 400ul $289 Details

Show all CCDC78 antibodies


Product Images
CCDC78 antibody - middle region (ARP53233_P050) in Human HepG2 cells using Western Blot

Sample Type: Human HepG2


CCDC78 Protocols

Publications
Related Gene Trend Categories
Species
CatalogPredicted Species & TargetTarget ReferencePredicted Homology
ARP53232 Human CCDC78 antibody; Homo sapiens CCDC78 antibody A2IDD5-5 100.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody A2IDD5-3 93.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody A2IDD5-4 93.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody A2IDD5-5 93.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody A2IDD5-6 93.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody A2IDD5-2 92.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody A2IDD5 92.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody D3DU61 92.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody H3BLT8 92.0%
ARP53233 Human CCDC78 antibody; Homo sapiens CCDC78 antibody I3L158 92.0%
ARP53233 Sumatran orangutan CCDC78 antibody; Pongo abelii CCDC78 antibody H2NPM0 83.0%

Tissue & Cell Line Gene Expression Data