GENE NAME | ADD3 |
CHROMOSOME | 10 |
ENSEMBL ID | ENSG00000148700 |
ENTREZ ID | 120 |
UNIPROT ACCESSION NUMBER | Q9UEY8 |
GO MOLECULAR FUNCTION | actin filament binding; structural constituent of cytoskeleton; actin binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-382551; R-HSA-5223345 |
1 combination linked to ADD3 | OLI007 |
1 variant linked to ADD3 | ADD3:c.1975G>C, p.Glu659Gln |
2 diseases linked to ADD3 | Genetic steroid-resistant nephrotic syndrome; Microcephaly-cardiomyopathy syndrome |