" /> ABCD4 wt Allele - CISMeF





Preferred Label : ABCD4 wt Allele;

NCIt synonyms : PMP69; MAHCJ; ABC41; P79R; PXMP1L; EST352188; ATP-Binding Cassette, Subfamily D, Member 4 Gene; ATP-Binding Cassette, Sub-Family D (ALD), Member 4 Gene; P70R; ATP Binding Cassette Subfamily D Member 4 wt Allele;

NCIt definition : Human ABCD4 wild-type allele is located in the vicinity of 14q24.3 and is approximately 18 kb in length. This allele, which encodes lysosomal cobalamin transporter ABCD4 protein, is involved in the cellular localization of vitamin B12. Mutation of the gene is associated with methylmalonic aciduria and homocystinuria, cblJ type.;

NCI Metathesaurus CUI : CL1905125;

GenBank Accession Number : AF009746;

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31/07/2025


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