Details for Gene AP4M1

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

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