Details for Gene TOM1L2

GENE NAME TOM1L2
CHROMOSOME 17
ENSEMBL ID ENSG00000175662
ENTREZ ID 146691
UNIPROT ACCESSION NUMBER Q6ZVM7
GO MOLECULAR FUNCTION protein kinase binding; clathrin binding; protein binding; ubiquitin binding; phosphatidylinositol binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS
1 combination linked to TOM1L2 OLI983
1 variant linked to TOM1L2 TOM1L2:c.98A>C, p.Asn33Thr
1 disease linked to TOM1L2 Overgrowth or tall stature syndrome with skeletal involvement

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