Gene: B9D1

Alternate names for this Gene: B9|EPPB9|JBTS27|MKS9|MKSR-1|MKSR1

Gene Summary: This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: B9 domain containing 1

Type of Gene: protein-coding

rs143149764 in B9D1 gene and Familial aplasia of the vermis PMID 21493627 2011 B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs886038205 in B9D1 gene and JOUBERT SYNDROME 27 PMID 24886560 2014 Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

rs143149764 in B9D1 gene and Meckel-Gruber syndrome PMID 21493627 2011 B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

rs72838804 in B9D1 gene and Schizophrenia PMID 27846195 2017 Genome-wide association study of paliperidone efficacy.