Full name: tetratricopeptide repeat domain 8

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 0610012F22Rik; BBS8

Summary: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in cilium assembly. Acts upstream of or within several processes, including morphogenesis of a polarized epithelium; negative regulation of GTPase activity; and nervous system development. Located in membrane and photoreceptor connecting cilium. Part of BBSome. Is expressed in sensory organ; spermatid; and telencephalon. Used to study Bardet-Biedl syndrome 8. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 8; and retinitis pigmentosa 51. Orthologous to human TTC8 (tetratricopeptide repeat domain 8). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in frontal lobe adult (RPKM 9.8), limb E14.5 (RPKM 8.0) and 26 other tissues

Gene size: 62714bp

Exon count: 15