HYDIN (Entrez ID: 54768)

Entrez Gene ID 54768
Official Gene Symbol HYDIN (GeneCards)
Full name HYDIN, axonemal central pair apparatus protein
Location 16q22.2
Other ids Vega : OTTHUMG00000137584
MIM : 610812
HGNC : HGNC:19368
Ensembl : ENSG00000157423
Other names CILD5, HYDIN1, HYDIN2, PPP1R31
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]

Variants

Found 1 variant in this database.