C12orf57 gene

chromosome 12 open reading frame 57

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

From NCBI Gene:

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

From UniProt:

In brain, may be required for corpus callusum development.

From NCBI Gene:

  • Temtamy syndrome

From UniProt:

Temtamy syndrome (TEMTYS): A mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. [MIM:218340]

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31

Molecular Location: base pairs 6,943,438 to 6,946,003 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p13.31, which is the short (p) arm of chromosome 12 at position 13.31
  • C10
  • GRCC10