Defective SLC33A1 causes spastic paraplegia 42 (SPG42)

Stable Identifier
Homo sapiens
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The human gene SLC33A1 encodes acetyl-CoA transporter AT1. SLC33A1 transports cytosolic acetyl-CoA (Ac-CoA) to the Golgi apparatus lumen, where it serves as the substrate for acetyltransferases that O-acetylates sialyl residues of gangliosides and glycoproteins (Hirabayashi et al. 2013). Defects in SLC33A1 are the cause of spastic paraplegia autosomal dominant type 42 (SPG42; MIM:612539), a neurodegenerative disorder characterised by a variable speed of (but progressive) weakness and spasticity of the lower limbs (Lin et al. 2008, Hirabayashi et al. 2013). Defects in SLC33A1 can also cause congenital cataracts, hearing loss, and neurodegeneration (CCHLND; MIM:614482), an autosomal recessive disorder characterised by congenital cataracts, severe psychomotor retardation, and hearing loss, together with decreased serum ceruloplasmin and copper (Huppke et al. 2012).

Literature References
PubMed ID Title Journal Year
23506891 The acetyl-CoA transporter family SLC33

Nomura, KH, Hirabayashi, Y, Nomura, K

Mol. Aspects Med. 2013
19061983 A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

Qiu, R, Yang, W, Yan, C, Gao, G, Liu, Q, Hu, H, Gong, Y, Mao, F, Lin, P, Shao, C, Li, J, Li, J, Yang, Y, Song, Y

Am J Hum Genet 2008
22243965 Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

Ullmann, R, Elpeleg, O, Kalscheuer, V, Dad, S, Møller, LB, Haas, S, Nürnberg, P, Pitelet, G, Korenke, GC, Hillebrand, M, Gärtner, J, Kaler, SG, Freisinger, P, Marquardt, I, Nürnberg, G, Gruber-Sedlmayr, U, Brendel, C, Huppke, P, Wilson, C, Christodoulou, J

Am. J. Hum. Genet. 2012
Name Identifier Synonyms
neurodegenerative disease DOID:1289 degenerative disease, Neurodegenerative disease
cataract DOID:83
sensorineural hearing loss DOID:10003 Perceptive hearing loss, Perceptive deafness [diagnos], Perceptive hearing loss or deafness, high-frequency hearing loss, central hearing loss, sensorineural hearing loss, Sensorineural Deafness, High frequency deafness, Sensory hearing loss, High Frequency Hearing Loss
hereditary spastic paraplegia DOID:2476 Hereditary spastic paraplegia, Hereditary spastic paraplegia, Hereditary spastic paraplegia (disorder), Hereditary spastic paraplegia, familial spastic paraplegia, HSMN V
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