ABCD4 14:74752126-74769759

Reverse strand gene: ATP binding cassette subfamily D member 4

Formerly known as: PXMP1L

Also known as: EST352188, P70R, PMP69, ENSG00000119688

Function: Lysosomal transporter that plays a role in the lysosomal release of vitamin B12 into the cytosol (PubMed:22922874). Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane (PubMed:27456980). Then forms a complex with lysosomal chaperone … Source: UniProt

DECIPHER holds 2 sequence variants in this gene, in 2 open-access patients