ATP binding cassette subfamily D member 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Adult onset hereditary spastic paraplegia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Adult onset leukodystrophy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Adult onset neurodegenerative disorder
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Childhood onset hereditary spastic paraplegia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Congenital adrenal hypoplasia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesHereditary neuropathy or pain disorder
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Hereditary spastic paraplegia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)+8 more panels — install the extension to see the full list inline on any page.
adrenoleukodystrophy
X-linked adrenoleukodystrophy
hereditary disease
Spastic paraparesis
X-linked cerebral adrenoleukodystrophy
neurodegenerative disease
chronic primary adrenal insufficiency
X-linked spondyloepimetaphyseal dysplasia
adrenomyeloneuropathy
Hirschsprung disease
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
ATP-binding cassette sub-family D member 1
ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502, PubMed:21145416, PubMed:23671276, PubMed:29397936, PubMed:33500543). Coupled to the ATP-dependent transporter activity also has a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essential during this transport process (PubMed:29397936, PubMed:33500543). 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 (PubMed:21145416, PubMed:23671276). 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. Also controls the cellular response to oxidative stress by regulating mitochondrial functions such as mitochondrial oxidative phosphorylation and depolarization. And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (By similarity)
ABCD1 · P33897
Mean pLDDT
80.6/ 100
Confident
745 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
