SLC5A6, solute carrier family 5 member 6, 8884

N. diseases: 37; N. variants: 1
Disease: Biotin deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268680
Disease: Biotin deficiency
Biotin deficiency 		0.020 GeneticVariation disease BEFREE We have previously shown that mice with an embryonic intestinal-specific SMVT knockout (KO) develop biotin deficiency and severe spontaneous intestinal inflammation in addition to growth retardation, developmental delays, and death within the first 6-7 wk of life. 31369292 2019
CUI: C0268680
Disease: Biotin deficiency
Biotin deficiency 		0.020 GeneticVariation disease BEFREE Utilizing a conditional (intestinal-specific) knockout (cKO) mouse model, we have recently shown that the sodium-dependent multivitamin transporter (SMVT) (SLC5A6) is the only biotin uptake system that operates in the gut and that its deletion leads to biotin deficiency. 27492331 2016