ABCA5 transports CHOL from lysosomal lumen to cytosol

Stable Identifier
Reaction [transition]
Homo sapiens
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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, López-Cepeda, LD, Sobrino, A, Salas-Alanis, JC, Vitebsky, A, Silverberg, N, Warburton, D, Fantauzzo, KA, Dall'Armi, C, Levy, B, Kurban, M, Christiano, AM, Feenstra, H, Anyane-Yeboa, K, Rohena, L, Di Paolo, G, Kiuru, M, Jobanputra, V, Tadin-Strapps, M

PLoS Genet. 2014
12504089 Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant

Hirsch-Ernst, KI, Petry, F, Kotthaus, A

Biochem. Biophys. Res. Commun. 2003
Catalyst Activity

lipid transporter activity of ABCA5 [lysosomal membrane]

Orthologous Events
Cross References
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