ABCD4 wt Allele

**Semantic type:** Gene or Genome

**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.

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