Entity Details

Primary name CCDC50
Entity type gene
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Details

PrimaryID152137
RefseqGeneNG_008994
SymbolCCDC50
Namecoiled-coil domain containing 50
Chromosome3
Location3q28
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2002-01-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCCD50_HUMAN

GO terms

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GOName
GO:0005829 cytosol
GO:0007605 sensory perception of sound
GO:0031625 ubiquitin protein ligase binding

Diseases

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Disease IDSourceNameDescription
607453 OMIMDeafness, autosomal dominant, 44 (DFNA44)A form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. The disease is caused by variants affecting the gene represented in this entry.