DISEASES

Disease-gene associations mined from literature

Literature associating ABCD1 and rhizomelic chondrodysplasia punctata

ABCD1 [ENSP00000218104]

ATP-binding cassette sub-family D member 1; Plays a role in the transport of free very-long-chain fatty acids (VLCFAs) as well as their CoA-esters across the peroxisomal membrane by acting as an ATP-specific binding subunit releasing ADP after ATP hydrolysis (PubMed:15682271, PubMed:11248239, PubMed:16946495). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation . Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance. Controls also the cellular response to oxidative stress by regulating mitochondrial function like, mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity). ECO:0000269|PubMed:15682271, ECO:0000269|PubMed:16946495,; Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily.

Synonyms:  ABCD1,  ABCD1p,  hABCD1,  A6NEP8,  P33897 ...

Linkouts:  STRING  Pharos  UniProt  OMIM