Defective SLC2A10 does not transport Glc from extracellular region to cytosol

Stable Identifier
R-HSA-5632871
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
17935213 Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

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

Hum. Mutat. 2008
16550171 Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

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

Nat Genet 2006
18565096 Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

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

Clin. Genet. 2008
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
D-glucose transmembrane transporter activity of SLC2A10 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
arterial tortuosity syndrome 0050645
Authored
Reviewed
Created
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