GENE NAME | ADNP |
CHROMOSOME | 20 |
ENSEMBL ID | ENSG00000101126 |
ENTREZ ID | 23394 |
UNIPROT ACCESSION NUMBER | Q9H2P0 |
GO MOLECULAR FUNCTION | metal ion binding; protein binding; DNA binding; copper ion binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
2 combinations linked to ADNP | OLI787; OLI788 |
1 variant linked to ADNP | ADNP:c.775A>C, p.Asn259His |
1 disease linked to ADNP | Arthrogryposis syndrome |