GENE NAME | AP4M1 |
CHROMOSOME | 7 |
ENSEMBL ID | ENSG00000221838 |
ENTREZ ID | 9179 |
UNIPROT ACCESSION NUMBER | O00189 |
GO MOLECULAR FUNCTION | protein transmembrane transporter activity; protein binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-199992; hsa04142; R-HSA-199991; R-HSA-432720; R-HSA-5653656 |
1 combination linked to AP4M1 | OLI792 |
1 variant linked to AP4M1 | AP4M1:c.136C>G, p.Pro46Ala |
1 disease linked to AP4M1 | Arthrogryposis syndrome |