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Group enriched (HDLM-2, Karpas-707, SH-SY5Y, U-266/70)
HPA (normal tissue):
Tissue enhanced (adipose tissue)
Protein evidence
Evidence at protein level
ANTIBODY IHC RELIABILITY
Reliability score
Pending cancer tissue analysis.
PROGNOSTIC SUMMARY
Gene product is not prognostic.
Show all
RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enriched (glioma)
PROTEIN EXPRESSION
Pending cancer tissue analysis
STAINING SUMMARY
GENE INFORMATION
Gene name
ABCD2 (HGNC Symbol)
Synonyms
ALDL1, ALDR, ALDRP
Description
ATP-binding cassette, sub-family D (ALD), member 2 (HGNC Symbol)
Entrez gene summary
The 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 this 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]
