Gene Symbol | CFAP298 |
Entrez Gene ID | 56683 |
Full Name | chromosome 21 open reading frame 59 |
Synonyms | C21orf48,CILD26,FBB18,Kur |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 26, 615500 (3) |