| Primary Identifier | MGI:1095419 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 22289 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA binding activity; histone H3K27me2/H3K27me3 demethylase activity; and identical protein binding activity. Involved in chromatin remodeling. Acts upstream of or within several processes, including chordate embryonic development; embryonic morphogenesis; and respiratory system process. Located in nucleus. Part of histone methyltransferase complex. Is expressed in several structures, including alimentary system; early conceptus; gonad; liver; and spleen. Used to study chronic myelomonocytic leukemia. Human ortholog(s) of this gene implicated in several diseases, including Kabuki syndrome; bladder urothelial carcinoma; gastrointestinal system cancer (multiple); lung carcinoma (multiple); and triple-receptor negative breast cancer. Orthologous to human KDM6A (lysine demethylase 6A). PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, caudal body truncation, abnormal neural tube closure and abnormal heart development. Mice hemizygous for this allele exhibit perinatal lethality, abnormal neural tube closure, inability to breath, exencephaly and atelectasis. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
