Aliases for TAPT1 Gene
External Ids for TAPT1 Gene
Previous GeneCards Identifiers for TAPT1 Gene
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]
GeneCards Summary for TAPT1 Gene
TAPT1 (Transmembrane Anterior Posterior Transformation 1) is a Protein Coding gene. Diseases associated with TAPT1 include Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type and Microcephalic Osteodysplastic Primordial Dwarfism, Type I. Gene Ontology (GO) annotations related to this gene include growth hormone-releasing hormone receptor activity.
UniProtKB/Swiss-Prot Summary for TAPT1 Gene
Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity).
(Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169.