TMEM107 gene

transmembrane protein 107

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]

From UniProt:

Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types.

Covered on Genetics Home Reference:

From NCBI Gene:

  • OROFACIODIGITAL SYNDROME XVI
  • MECKEL SYNDROME 13

Cytogenetic Location: 17p13.1, which is the short (p) arm of chromosome 17 at position 13.1

Molecular Location: base pairs 8,172,978 to 8,176,396 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17p13.1, which is the short (p) arm of chromosome 17 at position 13.1
  • GRVS638
  • JBTS29
  • MKS13
  • PRO1268