TAPT1, Official Symbol TAPT1provided by HGNC Official Full Name transmembrane anterior posterior transformation 1provided by HGNC Primary source HGNC:HGNC:26887 See related Ensembl:ENSG00000169762 MIM:612758; AllianceGenome:HGNC:26887 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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 See more Orthologs mouse all