Gene Review:
SHPK - sedoheptulokinase
Homo sapiens
Synonyms:
CARKL, Carbohydrate kinase-like protein, SHK, Sedoheptulokinase
- The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Touchman, J.W., Anikster, Y., Dietrich, N.L., Maduro, V.V., McDowell, G., Shotelersuk, V., Bouffard, G.G., Beckstrom-Sternberg, S.M., Gahl, W.A., Green, E.D. Genome Res. (2000)
- The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region. Phornphutkul, C., Anikster, Y., Huizing, M., Braun, P., Brodie, C., Chou, J.Y., Gahl, W.A. Am. J. Hum. Genet. (2001)