Full name: transmembrane anterior posterior transformation 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CMVFR; OCLSBG

Summary: This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]

Expression: Ubiquitous expression in bone marrow (RPKM 10.8), testis (RPKM 8.7) and 25 other tissues

Gene size: 66886bp

Exon count: 19