Defective SLC2A10 does not transport Glc from extracellular region to cytosol

Stable Identifier
Reaction [transition]
Homo sapiens
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Four class III facilitative transporters can transport glucose; SLC2A6, 8, 10 and 12 (encoding GLUT6, 8, 10 and 12 respectively). SLC2A10 (located in the Type 2 diabetes-linked region of human chromosome 20q12-13.1) encodes GLUT10, a transporter with high affinity for glucose. GLUT10 is highly expressed in liver and pancreas but is present at lower levels in most tissues. Defects in SLC2A10 are the cause of arterial tortuosity syndrome (ATS; MIM:208050), an autosomal recessive disorder of connective tissue characterised by tortuosity and elongation of major arteries, often resulting in death at a young age (Coucke et al. 2006). Mutations causing ATS include W170*, V321Cfs*71, G445Efs*40, S81R, G426W and R132W (Coucke et al. 2006, Faiyaz-Ul-Haque et al. 2008, Callewaert et al. 2008).

Literature References
PubMed ID Title Journal Year
16550171 Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Callewaert, B, Coucke, PJ, Willems, PJ, Gardella, R, Wessels, MW, Mancini, GM, Barlati, S, Facchetti, F, De Backer, J, Loeys, B, Fox, JE, De Paepe, A, Dietz, HC, Forsyth, R, Colombi, M, Willaert, A, Kambouris, M, Zoppi, N

Nat Genet 2006
17935213 Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Willaert, A, Ramos-Arroyo, MA, Albrecht, B, Devriendt, K, Coucke, PJ, Hennekam, RC, Pyeritz, RE, Doco-Fenzy, M, Loeys, BL, Kerstjens-Frederikse, WS, Callewaert, BL, Nik-zainal, S, De Paepe, AM, Francannet, C, Gillessen-kaesbach, G, Booth, C, Krogmann, ON, Dekens, R, Barrow, M, Mauran, P, Wakeling, EL, De Backer, J

Hum. Mutat. 2008
18565096 Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

Wahab, AA, Teebi, AS, Faiyaz-Ul-Haque, M, Eltohami, A, Zaidi, SH, Al-Mureikhi, MS, Tsui, LC, Peltekova, VD, Al-Thani, G

Clin. Genet. 2008
Catalyst Activity

D-glucose transmembrane transporter activity of SLC2A10 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC2A10 mutants [plasma membrane]

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