Reactome | ABCA5 transports CHOL from lysosomal lumen to cytosol

ABCA5 transports CHOL from lysosomal lumen to cytosol

Stable Identifier

R-HSA-8848053

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol, lysosomal membrane, lysosomal lumen

ReviewStatus

5/5

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ABCA5 transports CHOL from lysosomal lumen to cytosol

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The ABC transporter subfamily A member ABCA5 is thought to mediate cholesterol (CHOL) efflux from lysosomes (Petry et al. 2003). ABCA5 defects are associated with autosomal recessive congenital generalised hypertrichosis terminalis (CGHT; MIM:135400). Lysosomal function is reduced with an accumulation of autophagosomes and their cargo as well as increased endolysosomal cholesterol in CGHT keratinocytes, resulting in hair overgrowth (DeStefano et al. 2014).

Literature References

PubMed ID	Title	Journal	Year
24831815	Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth DeStefano, GM, Kurban, M, Anyane-Yeboa, K, Dall'Armi, C, Di Paolo, G, Feenstra, H, Silverberg, N, Rohena, L, López-Cepeda, LD, Jobanputra, V, Fantauzzo, KA, Kiuru, M, Tadin-Strapps, M, Sobrino, A, Vitebsky, A, Warburton, D, Levy, B, Salas-Alanis, JC, Christiano, AM	PLoS Genet.	2014
12504089	Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant Petry, F, Kotthaus, A, Hirsch-Ernst, KI	Biochem. Biophys. Res. Commun.	2003