Details for Gene ADNP

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

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