Details for Gene CRTAP

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

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