SCAP, SREBF chaperone, 22937

N. diseases: 35; N. variants: 3
Disease: Adrenoleukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.010 Biomarker disease BEFREE We used fish which harbor a mutation in the gene encoding the membrane bound transcription factor protease 1 (mbtps1; also called site-1 protease) and embryos in which the Srebp cleavage activating protein (scap) is knocked down to determine the requirement of this pathway in acute ALD. 21284674 2011