GENE NAME | AHI1 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000135541 |
ENTREZ ID | 54806 |
UNIPROT ACCESSION NUMBER | Q8N157 |
GO MOLECULAR FUNCTION | protein binding; identical protein binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-5617833; R-HSA-1852241; R-HSA-5620912 |
1 combination linked to AHI1 | OLI832 |
1 variant linked to AHI1 | AHI1:c.2488C>T, p.Arg830Trp |
1 disease linked to AHI1 | Acrocallosal syndrome |