Aliases for TAPT1 Gene
External Ids for TAPT1 Gene
Previous GeneCards Identifiers for TAPT1 Gene
This gene encodes a highly conserved, putative transmembrane protein. 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. This gene is proposed to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. An alternatively spliced transcript variant encoding a substantially different isoform has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for TAPT1 Gene
TAPT1 (Transmembrane Anterior Posterior Transformation 1) is a Protein Coding gene. Diseases associated with TAPT1 include Complex Lethal Osteochondrodysplasia and Osteochondrodysplasia. GO annotations related to this gene include growth hormone-releasing hormone receptor activity.
UniProtKB/Swiss-Prot 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.