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FLASH GENE

Symbol

ABCD1

contributors: mct/npt - updated : 19-10-2014

HGNC name	ATP-binding cassette, sub-family D (ALD), member 1
HGNC id	61

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALD X-linked adrenoleukodystrophy DDCH deafness, dystonia, and central hypomyelination
Location	Xq28      Physical location : 152.990.322 - 153.010.216
Synonym name	adrenoleukodystrophy protein
Synonym symbol(s)	ALDP, AMN, ABC42, X-ALD

DNA

TYPE	functioning gene
STRUCTURE	19.89 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000033 10 - 3697 NP_000024 82 745 - 2002 12176987

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       highly Reproductive female system uterus cervix   highly   male system testis       Homo sapiens Skin/Tegument skin       highly

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Sertoli cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	N-terminal hydrophobic region and is targeted to peroxisomes
	one hydrophilic ATP binding domain
	one ABC transmembrane domain type 1(6 segments)
	PEX19-binding sites

mono polymer

heteromer , dimer

HOMOLOGY

interspecies

homolog to murine Abcd1

Homologene

FAMILY	ABC transporter superfamily
	ABCD family
	peroxisomal fatty acyl CoA transporter subfamily

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,peroxisome
	intracellular,cytoplasm,cytosolic
text	region between transmembrane domain 2 and 3 is important for the targeting of ABCD1 to the peroxisome (Takahashi 2007)

basic FUNCTION	dysplaying overlapping functions with 3 other ABC proteins (PMP70, ABCD2, P70R)
	half ABC transporter, traffic ATPase, enhancing the association of very long chain acyl-CoA synthethase with the peroxisome and involved in metabolic transport of long and very long chain fatty acids (VLCFA) into peroxisomes
	likely involved in the peroxisomal transport or catabolism of very long chain fatty acids
	having partial functional redundancy with ABCD3
	required for fatty acid transport across the peroxisomal membrane
	ABCD1-independent peroxisomal and mitochondrial beta-oxidation pathways significantly contribute to VLCFA beta-oxidation in astrocytic cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

can form homo- and heterodimers with ABCD2/ALDR and ABCD3/PMP70 ( dimerization is necessary to form an active transporter)

INTERACTION

DNA

RNA

small molecule

protein	interacting with ABCD3 for regulation of fatty acid transport into peroxisomes
	interacts with PEX19

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ALD , DDCH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   enhances metabolic distress in oligodendrocytes that are compromised a priori by destabilised myelin (Dumser 2007) tumoral     --low   in human renal cell carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

ALDP-deficient mice replicate metabolic dysfunctions and develop late-onset axonopathy but lack histological signs of cerebral inflammation and demyelination (Dumser 2007)