GENE NAME | DPT |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000143196 |
ENTREZ ID | 1805 |
UNIPROT ACCESSION NUMBER | Q07507 |
GO MOLECULAR FUNCTION | extracellular matrix structural constituent; protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
2 combinations linked to DPT | OLI248; OLI249 |
1 variant linked to DPT | DPT:c.446A>G, p.Tyr149Cys |
2 diseases linked to DPT | Congenital glaucoma; Rare congenital non-syndromic heart malformation |