CRISPR/Cas9 technology generated a TGT to GCT change at the redox-regulated residue C254 resulting in a cysteine to alanine substitution at this residue (C254A). This substitution is thought to destabilize the inactive conformation and desensitize UCP1 to activation. (J:321712)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count