transmembrane anterior posterior transformation 1
The information on this page was automatically extracted from online scientific databases.
From NCBI 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]
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.
From NCBI Gene:
- Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG): An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. [MIM:616897]