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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

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)