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Details of MLL2 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| MLL2 | ALR,KMT2D,MLL4 | O14686 | MLL2_HUMAN | 8085 | ENSG00000167548 | Histone-lysine N-methyltransferase MLL2 | SPROT |
Disease |
Disease |
OMIM id |
Kabuki syndrome 1 (KABUK1) [MIM:147920]: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy. Note=The disease is caused by mutations affecting the gene represented in this entry. |
147920 |