Chromosome 12 open reading frame 57 (C12orf57)

Chromosome 12 open reading frame 57 (C12orf57) encodes a ubiquitously expressed, cytoplasmic protein of 126 amino acids that is especially required in the brain for development of the corpus callosum[1][5][6][7]. Pathogenic variants in C12orf57 are causative for Temtamy syndrome, a rare autosomal recessive disorder characterized by severe developmental delay, epilepsy, variable craniofacial and ocular anomalies (such as colobomatous microphthalmia), and abnormalities of the corpus callosum[4][5]. The precise biochemical function remains unknown, but loss-of-function mutations result in disease due to deficits in neural development, particularly the corpus callosum[1][5]. The gene does not belong to classical receptor, enzyme, or transporter families and has no currently established direct drug interactions or biomarker applications[1][7].

Other names

Protein C10GRCC10gene rich cluster C10likely ortholog of mouse gene rich cluster C10C10