Gene: SLC17A5

Alternate names for this Gene: AST|ISSD|NSD|SD|SIALIN|SIASD|SLD

Gene Summary: This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form.

Gene is located in Chromosome: 6

Location in Chromosome : 6q13

Description of this Gene: solute carrier family 17 member 5

Type of Gene: protein-coding

rs794729653 in SLC17A5 gene and Infantile Sialic Acid Storage Disease PMID 15805149 2005 Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

PMID 10581036 1999 A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

rs549852 in SLC17A5 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs1057516910 in SLC17A5 gene and Sialic Acid Storage Disease, Finnish Type (disorder) PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 15805149 2005 Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

PMID 12794688 2003 Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

PMID 10947946 2000 The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

PMID 10581036 1999 A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

PMID 23900835 2014 Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

PMID 24767253 2014 Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

PMID 24993898 2014 The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings.

PMID 12637289 2003 Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

PMID 28662915 2017 Sequencing of SLC17A5 revealed compound heterozygous likely pathogenic variants, namely, a known missense (c.291G>A) variant and a novel truncating (c.819+1G>A) variant, confirming the diagnosis of Salla disease at age 3.5 years.

PMID 20101035 2010 Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.

PMID 25085675 2014 Abstracts of the SSIEM 2014 Annual Symposium, 2-5 September, 2014, Innsbruck, Austria.

PMID 15172001 2004 Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

PMID 16715535 2006 Prenatal diagnosis of free sialic acid storage disorders (SASD).

PMID 12592494 2003 A case of Salla disease with involvement of the cerebellar white matter.

PMID 12359136 2003 Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.

PMID 15516337 2005 Varied mechanisms underlie the free sialic acid storage disorders.

PMID 12709150 2003 Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.

PMID 27848944 2017 Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

PMID 18695252 2008 Identification of a vesicular aspartate transporter.

PMID 10581036 1999 We found a homozygous SLC17A5 mutation (R39C) in five Finnish patients with Salla disease and six different SLC17A5 mutations in six ISSD patients of different ethnic origins.

PMID 10947946 2000 The same R39C mutation was also found both in most of the Swedish patients with SD and in a heterozygous form in five patients from central Europe who presented with an unusually severe (intermediate) SD phenotype.

PMID 15510212 2004 Functional characterization of wild-type and mutant human sialin.

PMID 12794687 2003 Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.

PMID 21781115 2011 Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H+/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein.

PMID 12794688 2003 This girl is compound heterozygous for the SLC17A5 mutation commonly found in Finnish Salla disease patients (R39C) and a 15-bp deletion found in ISSD patients (del 801-815).

PMID 11992753 2002 Although the vast majority of Salla disease patients in Finland share the same founder mutation, R39C in the SLC17A5 gene, there still is a wide clinical variation among mentally retarded, ataxic patients.

PMID 21781115 2011 Aspartate and glutamate transport was not detected in the R39C and K136E mutant forms of SLC17A5 protein associated with Salla disease, whereas H+/sialic acid co-transport activity corresponded to 30-50% of the recombinant wild-type protein.

PMID 16170568 2005 The severity of the clinical picture, in comparison with the classical SD, may be explained by the fact that the p.K136E mutation mislocalizes the protein to a greater degree than p.R39C.

PMID 19557856 2009 Free sialic acid storage disease without sialuria.