GENE NAME | CRTAP |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000170275 |
ENTREZ ID | 10491 |
UNIPROT ACCESSION NUMBER | O75718 |
GO MOLECULAR FUNCTION | collagen binding; protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1474244; R-HSA-1650814; R-HSA-1474290 |
1 combination linked to CRTAP | OLI1137 |
1 variant linked to CRTAP | CRTAP:c.514C>G, p.Leu172Val |
1 disease linked to CRTAP | Mayer-Rokitansky-Küster-Hauser syndrome |