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FLASH GENE

Symbol

SLC33A1

contributors: shn/mct - updated : 25-01-2013

HGNC name	solute carrier family 33 (acetyl-CoA transporter), member 1, SPG42
HGNC id	95

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SPG42 , LCCH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function   somatic mutation   --low loss of function haploinsufficient constitutional       loss of function may lead to very low ceruloplasmin but not total body copper deficiency or toxicity

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Knockdown of Slc33a1 in zebrafish caused a curve-shaped tail and defective axon outgrowth from the spinal cord,
	the wild-type human SLC33A1 was able to rescue the phenotype caused by Slc33a1 knockdown in zebrafish, the mutant SLC33A1 (p.S113R) was not, suggesting that S113R mutation renders SLC33A1 nonfunctional and one that wild-type allele is not sufficient for sustaining the outgrowth and maintenance of long motor axons in human heterozygotes.