Lysosomal membrane protein that transports cobalamin (Vitamin B12) from the lysosomal lumen to the cytosol in an ATP-dependent manner (PubMed:22922874, PubMed:28572511, PubMed:31467407, PubMed:33845046). Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane (PubMed:27456980). Then forms a complex with lysosomal chaperone LMBRD1 and cytosolic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791).
Methylmalonic aciduria and homocystinuria type cblJ
MAHCJ
A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.
Ubiquitous.
PXMP1L, ABCD4, Lysosomal cobalamin transporter ABCD4, ATP-binding cassette sub-family D member 4, PMP70-related protein, Peroxisomal membrane protein 1-like, Peroxisomal membrane protein 69, P70R, PXMP1-L, PMP69
Proteins
Metabolism
68597Da
We found 1 product in 1 category