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

BRENDA support

Literature summary for 2.3.1.78 extracted from

  • Haer-Wigman, L.; Newman, H.; Leibu, R.; Bax, N.M.; Baris, H.N.; Rizel, L.; Banin, E.; Massarweh, A.; Roosing, S.; Lefeber, D.J.; Zonneveld-Vrieling, M.N.; Isakov, O.; Shomron, N.; Sharon, D.; Den Hollander, A.I.; Hoyng, C.B.; Cremers, F.P.; Ben-Yosef, T.
    Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) (2015), Hum. Mol. Genet., 24, 3742-3751.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine identification of HGSNAT mutations in six patients with non-syndromic retinitis pigmentosa. Homozygous HGSNAT variant c.370A>T leads to partial skipping of exon 3. In other patients with retinitis pigmentosa, a complex HGSNAT variant, c.[398G>C; 1843G>A] on one allele, and c.1843G>A on the other allele, is found. HGSNAT activity levels in blood leukocytes of patients are reduced compared with healthy controls, but usually higher than those in mucopolysaccharidosis type IIIC patients. All patients are diagnosed with non-syndromic retinitis pigmentosa and do not exhibit neurological deterioration, or any phenotypic features consistent with in mucopolysaccharidosis type IIIC. Four of the patients are over 60 years old, exceeding by far the life expectancy of mucopolysaccharidosis IIIC patients Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q68CP4
-
-