Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

ATP-binding cassette sub-family D member 4

The ABCD4 gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive Methylmalonic aciduria and homocystinuria cblJ.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Methylmalonic aciduria and homocystinuria cblJ



Holzinger A et. al. (1997) Primary structure of human PMP69, a putative peroxisomal ABC-transporter.


Shani N et. al. (1997) Identification of a fourth half ABC transporter in the human peroxisomal membrane.


Holzinger A et. al. (1998) Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter.


Asheuer M et. al. (2005) Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.


Coelho D et. al. (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

Update: Sept. 26, 2018