GENE NAME | IMPG2 |
CHROMOSOME | 3 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000081148 |
UNIPROT ACCESSION NUMBER | Q9BZV3 |
GO MOLECULAR FUNCTION | ['heparin binding', 'hyaluronic acid binding', 'extracellular matrix structural constituent'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
1 combination linked to IMPG2 | OLI1683 |
1 variant linked to IMPG2 | IMPG2:c.3688G>T, p.Ala1230Ser |
1 disease linked to IMPG2 | Non-Syndromic genetic keratoconus |