Gene: B9D2

Alternate names for this Gene: ICIS-1|JBTS34|MKS10|MKSR-2|MKSR2

Gene Summary: This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: B9 domain containing 2

Type of Gene: protein-coding

rs757863670 in B9D2 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs757863670 in B9D2 gene and MECKEL SYNDROME, TYPE 10 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.