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Gene Review

SHPK  -  sedoheptulokinase

Homo sapiens

Synonyms: CARKL, Carbohydrate kinase-like protein, SHK, Sedoheptulokinase
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Disease relevance of CARKL

  • Interestingly, both CTNS and CARKL are absent in nearly half of all cystinosis patients (i.e., those homozygous for the common deletion) [1].

High impact information on CARKL

  • However, the patients' CTNS promoter mutations have no effect on CARKL promoter activity [2].

Biological context of CARKL


Analytical, diagnostic and therapeutic context of CARKL

  • In particular, sequence analysis detected the presence of a novel gene (CARKL) residing within the most common cystinosis-causing deletion [1].


  1. 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) [Pubmed]
  2. 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) [Pubmed]
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