Gene Symbol | JMJD1C |
Entrez Gene ID | 221037 |
Full Name | jumonji domain containing 1C |
Synonyms | KDM3C,TRIP-8,TRIP8 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. |
Disorder MIM: |