Full Name: Jumonji Domain Containing 1C
Genomic Location: Chromosome 10:63,167,221-63,521,850
Protein Size: 2540 amino acids
The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability.
- rs7923609 is linked to JMJD1C, it is located within an intron.
- Population frequencies are approximately 51% for the reference allele (A) and 49% for the alternate allele (G).
- Studies suggest the A allele is associated with reduced years of schooling.