|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family D (ALD), member 2|
|Synonyms||ABC39, adrenoleukodystrophy related, ALDL1, ALDR|
|Is this an essential gene?||Probably non essential (E-score: 0.097)|
|Stock #||R3821 (G1)|
|Chromosomal Location||91145871-91191799 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 91174705 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 512 (G512D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068940 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000069511]|
|Predicted Effect||probably damaging
AA Change: G512D
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: G512D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9747|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of Abcd1 and/or other peroxisomal ABC transporters. Mutations in the human gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene exhibit a late-onset cerebellar and sensory ataxia, loss of Purkinje cells, dorsal root ganglia cell degeneration, axonal degeneration in the spinal cord, and an accumulation of very long chain fatty acids. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcd2||
(F):5'- CATAACCCGAAGAGCCTGAG -3'
(R):5'- AGATCTCAGTTGAAGTGTTGTAGAG -3'
(F):5'- CCCGAAGAGCCTGAGAAACG -3'
(R):5'- GCTACTTTTAGCTTCAGAGAATAGTC -3'