Gene Symbol | CFAP53 |
Entrez Gene ID | 220136 |
Full Name | cilia and flagella associated protein 53 |
Synonyms | CCDC11,HTX6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]. |
Disorder MIM: | |
Disorder Html: | Heterotaxy, visceral, 6, autosomal recessive, 614779 (3) |