GENE NAME | ELP4 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000109911 |
UNIPROT ACCESSION NUMBER | A0A1X7SBS0 |
GO MOLECULAR FUNCTION | ['phosphorylase kinase regulator activity', 'protein binding', 'RNA polymerase II complex binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-3214847; R-HSA-3247509; R-HSA-4839726 |
1 combination linked to ELP4 | OLI1464 |
1 variant linked to ELP4 | Copy Number Variant deletion on chromosome 11 of the 31,652,219-31,764,393 in the gene ELP4 |
1 disease linked to ELP4 | Rare pervasive developmental disorder |