Gene Symbol | HYDIN |
Entrez Gene ID | 54768 |
Full Name | HYDIN, axonemal central pair apparatus protein |
Synonyms | CILD5,HYDIN1,HYDIN2,PPP1R31 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]. |
Disorder MIM: | |
Disorder Html: | Ciliary dyskinesia, primary, 5, 608647 (3) |