Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.7.1.14 extracted from

  • Wamelink, M.M.; Ramos, R.J.; van den Elzen, A.P.; Ruijter, G.J.; Bonte, R.; Diogo, L.; Garcia, P.; Neves, N.; Nota, B.; Haschemi, A.; Tavares de Almeida, I.; Salomons, G.S.
    First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? (2015), J. Inherit. Metab. Dis., 38, 889-894.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.1.14

Application

Application Comment Organism
medicine patient with an isolated sedoheptulokinase deficiency presents with neonatal cholestasis, hypoglycemia, and anemia, while a second patient presents with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients have elevated excretion of erythritol and sedoheptulose, and each has a homozygous nonsense mutation in sedoheptulokinase. In fibroblasts from patient 1, strongly reduced formation of sedoheptulose 7-phosphate is detected, but no mature enzyme. It is questionable whether enzyme deficiency is a causal factor for the clinical phenotypes of the patients Homo sapiens

Protein Variants

Protein Variants Comment Organism
E71X mutation identified in a patient with an isolated sedoheptulokinase deficiency, predicted to result in truncated nonfunctional proteins Homo sapiens
R119X mutation identified in a patient with an isolated sedoheptulokinase deficiency, predicted to result in truncated nonfunctional proteins Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9UHJ6
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
SHPK
-
 Homo sapiens