ATP-binding cassette sub-family D member 4 (ABCD4) is though...

created [InstanceEdit:5683328] Jassal, Bijay, 2015-03-13
dbId 5683324
displayName ATP-binding cassette sub-family D member 4 (ABCD4) is though...
schemaClass Summation
text ATP-binding cassette sub-family D member 4 (ABCD4) is thought to mediate the lysosomal export of cobalamin (Cbl aka vitamin B12) into the cytosol, making it available for the production of Cbl cofactors. Cbl is an important cofactor for correct haematological and neurological functions. Defects in ABCD4 can cause methylmalonic aciduria and homocystinuria, cblJ type (MAHCJ; MIM:614857), a genetically heterogeneous metabolic disorder of Cbl metabolism characterised by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinically, symptoms include feeding difficulties, poor growth, hypotonia, lethargy, anaemia and delayed development (Coelho et al. 2012).
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