CARKL [Homo sapiens]

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First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? [J Inherit Metab Dis. 2015]
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, et al. J Inherit Metab Dis. 2015 Sep; 38(5):889-94. Epub 2015 Feb 3.
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene. [Hum Mutat. 2008]
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Wamelink MM, Struys EA, Jansen EE, Levtchenko EN, Zijlstra FS, Engelke U, Blom HJ, Jakobs C, Wevers RA. Hum Mutat. 2008 Apr; 29(4):532-6.
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. [Am J Hum Genet. 2001]
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 JY, Gahl WA. Am J Hum Genet. 2001 Oct; 69(4):712-21. Epub 2001 Aug 14.

RefSeq genomic sequence
See the genomic reference sequence for the SHPK gene (NG_052852.1).
RefSeq protein
See the reference protein sequence for sedoheptulokinase (NP_037408.2).

Nucleotide
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MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein