B9D1

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. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011]

Description

B9 protein domain 1

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Predicted secreted proteins, Protein evidence (Kim et al 2014)

Chromosome

17:p11.2 (19337554 - 19378182)

Ensembl ID

ENSG00000108641  (ver. 84.38)

Orthologs

Mouse B9d1: ENSMUSG00000001039

UniProt

Q9UPM9

neXtProt

NX_Q9UPM9

Human splice variants
Mouse splice variants