SLC17A5 Gene (Protein Coding)

Solute Carrier Family 17 Member 5

GC06M073593
GIFtS:
44
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. [provided by RefSeq, Jul 2008] See more...

Aliases for SLC17A5 Gene

Aliases for SLC17A5 Gene

  • Solute Carrier Family 17 Member 5 2 3 4 5
  • AST 2 3 4
  • Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 2 3
  • Solute Carrier Family 17 (Anion/Sugar Transporter), Member 5 2 3
  • Vesicular H(+)/Aspartate-Glutamate Cotransporter 3 4
  • H(+)/Sialic Acid Cotransporter 3 4
  • Sialic Acid Storage Disease 2 3
  • H(+)/Nitrate Cotransporter 3 4
  • Membrane Glycoprotein HP59 3 4
  • SIALIN 2 3
  • Sialin 3 4
  • ISSD 2 3
  • NSD 2 3
  • SLD 2 3
  • SD 2 3
  • Sodium/Sialic Acid Cotransporter 3
  • SLC17A5 5
  • SIASD 3

External Ids for SLC17A5 Gene

Previous HGNC Symbols for SLC17A5 Gene

  • SIASD

Previous GeneCards Identifiers for SLC17A5 Gene

  • GC06M074261
  • GC06M074298
  • GC06M074359
  • GC06M071502
  • GC06M074303

Summaries for SLC17A5 Gene

Entrez Gene Summary for SLC17A5 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC17A5 Gene

SLC17A5 (Solute Carrier Family 17 Member 5) is a Protein Coding gene. Diseases associated with SLC17A5 include Salla Disease and Infantile Sialic Acid Storage Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Lysosome. Gene Ontology (GO) annotations related to this gene include carbohydrate:proton symporter activity and sialic acid transmembrane transporter activity. An important paralog of this gene is SLC17A6.

UniProtKB/Swiss-Prot Summary for SLC17A5 Gene

  • Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.

Gene Wiki entry for SLC17A5 Gene

Additional gene information for SLC17A5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC17A5 Gene

Genomics for SLC17A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC17A5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC17A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC17A5

Top Transcription factor binding sites by QIAGEN in the SLC17A5 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • Cdc5
  • Hlf
  • Nkx3-1
  • Nkx6-1
  • p53

Genomic Locations for SLC17A5 Gene

Genomic Locations for SLC17A5 Gene
chr6:73,593,379-73,653,992
(GRCh38/hg38)
Size:
60,614 bases
Orientation:
Minus strand
chr6:74,303,102-74,363,878
(GRCh37/hg19)
Size:
60,777 bases
Orientation:
Minus strand

Genomic View for SLC17A5 Gene

Genes around SLC17A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC17A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC17A5 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC17A5 Gene

Proteins for SLC17A5 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SLC17A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRA2-S17A5_HUMAN
    Recommended name:
    Sialin
    Protein Accession:
    Q9NRA2
    Secondary Accessions:
    • Q5SZ76
    • Q8NBR5
    • Q9UGH0

    Protein attributes for SLC17A5 Gene

    Size:
    495 amino acids
    Molecular mass:
    54640 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF97769.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC17A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC17A5 Gene

Protein Expression for SLC17A5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC17A5 Gene

  • Glycosylation at Asn71, Asn77, and Asn95
  • Ubiquitination at Lys263 and Lys278
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC17A5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC17A5 Gene

Domains & Families for SLC17A5 Gene

Gene Families for SLC17A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for SLC17A5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC17A5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57875, highly similar to Sialin (B4DFF2_HUMAN)
  • Solute carrier family 17 (Anion/sugar transporter), member 5, isoform CRA_a (E1P537_HUMAN)
  • Solute carrier family 17 member 5 (S17A5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NRA2

UniProtKB/Swiss-Prot:

S17A5_HUMAN :
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
Family:
  • Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.
genes like me logo Genes that share domains with SLC17A5: view

Function for SLC17A5 Gene

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

Molecular function for SLC17A5 Gene

UniProtKB/Swiss-Prot Function:
Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.
GENATLAS Biochemistry:
solute carrier family 17 member 5,anion/cation symporters

Phenotypes From GWAS Catalog for SLC17A5 Gene

Gene Ontology (GO) - Molecular Function for SLC17A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005351 carbohydrate:proton symporter activity TAS 10581036
GO:0015136 sialic acid transmembrane transporter activity IBA,IDA 10581036
GO:0015293 symporter activity IEA --
GO:0015538 sialic acid:proton symporter activity TAS --
GO:0022857 transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC17A5: view
genes like me logo Genes that share phenotypes with SLC17A5: view

Human Phenotype Ontology for SLC17A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC17A5 Gene

MGI Knock Outs for SLC17A5:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC17A5

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC17A5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC17A5 Gene

Localization for SLC17A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC17A5 Gene

Cell membrane. Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC17A5 gene
Compartment Confidence
plasma membrane 5
cytosol 5
lysosome 5
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC17A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IBA 21873635
GO:0005765 lysosomal membrane IDA,TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IEA,IDA --
GO:0005887 integral component of plasma membrane TAS 10581036
genes like me logo Genes that share ontologies with SLC17A5: view

Pathways & Interactions for SLC17A5 Gene

genes like me logo Genes that share pathways with SLC17A5: view

Gene Ontology (GO) - Biological Process for SLC17A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006820 anion transport TAS,IBA 21873635
GO:0006865 amino acid transport IEA --
GO:0009617 response to bacterium IEA --
GO:0015739 sialic acid transport IBA,IDA 10581036
genes like me logo Genes that share ontologies with SLC17A5: view

No data available for SIGNOR curated interactions for SLC17A5 Gene

Drugs & Compounds for SLC17A5 Gene

Products:

  1. Drug

(104) Drugs for SLC17A5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(48) Additional Compounds for SLC17A5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
 7440-23-5
genes like me logo Genes that share compounds with SLC17A5: view

Transcripts for SLC17A5 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLC17A5 Gene

9 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC17A5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC17A5 Gene

No ASD Table

Relevant External Links for SLC17A5 Gene

GeneLoc Exon Structure for
SLC17A5

Expression for SLC17A5 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC17A5 Gene

mRNA expression in normal human tissues for SLC17A5 Gene
mRNA expression by GTEx for SLC17A5 GenemRNA expression by BioGPS for SLC17A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC17A5 Gene

This gene is overexpressed in Nasal epithelium (62.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC17A5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC17A5

SOURCE GeneReport for Unigene cluster for SLC17A5 Gene:

Hs.597422

mRNA Expression by UniProt/SwissProt for SLC17A5 Gene:

Q9NRA2-S17A5_HUMAN
Tissue specificity: Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endothelial cells from the corresponding normal tissues.

Evidence on tissue expression from TISSUES for SLC17A5 Gene

  • Intestine(4.5)
  • Nervous system(3.7)
  • Lung(3.5)
  • Liver(3.1)
  • Thyroid gland(2.4)
  • Kidney(2.4)
  • Heart(2.4)
  • Skin(2.3)
  • Blood(2.2)
  • Muscle(2.1)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC17A5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • kidney
  • liver
  • spleen
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SLC17A5: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for SLC17A5 Gene

Orthologs for SLC17A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC17A5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLC17A5 30 31
  • 99.6 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC17A5 30 31
  • 90.37 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SLC17A5 30 31
  • 88.22 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Slc17a5 30 17 31
  • 83.77 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc17a5 30
  • 82.89 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 82 (a)
 OneToMany
-- 31
  • 70 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia SLC17A5 31
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SLC17A5 30 31
  • 75.57 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC17A5 31
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slc17a5 30
  • 70.2 (n)
Str.9993 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.16355 30
Zebrafish
(Danio rerio)
 Actinopterygii slc17a5 30 31
  • 63.9 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta MFS10 30
  • 49.54 (n)
CG4288 32
  • 42 (a)
Picot 32
  • 41 (a)
CG4330 32
  • 40 (a)
BG:DS07660.1 32
  • 37 (a)
CG6978 32
  • 37 (a)
CG15094 32
  • 36 (a)
CG3036 32
  • 36 (a)
CG4726 32
  • 36 (a)
CG9864 32
  • 36 (a)
l(2)08717 32
  • 36 (a)
CG8791 32
  • 34 (a)
CG15096 32
  • 34 (a)
CG9825 32
  • 31 (a)
CG9826 32
  • 31 (a)
NaPi-T 32
  • 31 (a)
CG7881 32
  • 29 (a)
CG30265 32
  • 28 (a)
CG30272 32
  • 28 (a)
CG2003 32
  • 27 (a)
CG3649 32
  • 27 (a)
BEST:CK02623 32
  • 27 (a)
Worm
(Caenorhabditis elegans)
 Secernentea C38C10.2 30 32
  • 50.55 (n)
ZK54.1 32
  • 42 (a)
F25G6.7 32
  • 31 (a)
T19D12.9 32
  • 27 (a)
T27D12.1 32
  • 27 (a)
F44E7.7 32
  • 26 (a)
T09B9.2 32
  • 25 (a)
ZK682.2 32
  • 25 (a)
C02C2.4 32
  • 25 (a)
F12B6.2a 32
  • 25 (a)
F12B6.2b 32
  • 25 (a)
F12B6.2c 32
  • 25 (a)
F45E4.11 32
  • 25 (a)
K10H10.1 32
  • 25 (a)
R10D12.1 32
  • 25 (a)
F21F8.11 32
  • 23 (a)
Species where no ortholog for SLC17A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC17A5 Gene

ENSEMBL:
Gene Tree for SLC17A5 (if available)
TreeFam:
Gene Tree for SLC17A5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC17A5: view image

Paralogs for SLC17A5 Gene

Paralogs for SLC17A5 Gene

(8) SIMAP similar genes for SLC17A5 Gene using alignment to 3 proteins:

  • S17A5_HUMAN
  • B4DFF2_HUMAN
  • H0UI05_HUMAN
genes like me logo Genes that share paralogs with SLC17A5: view

Variants for SLC17A5 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC17A5 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
644884 Pathogenic: Salla disease 73,644,477(-) A/T NONSENSE
672021 Benign: not provided 73,615,178(-) T/C INTRON_VARIANT
672060 Benign: not provided 73,641,374(-) C/T INTRON_VARIANT
672061 Benign: not provided 73,636,449(-) C/T INTRON_VARIANT
672062 Benign: not provided 73,635,780(-) T/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SLC17A5 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC17A5 Gene

Variant ID Type Subtype PubMed ID
dgv6015n100 CNV gain 25217958
esv1085598 CNV deletion 17803354
esv1724578 CNV insertion 17803354
esv23040 CNV loss 19812545
esv2647946 CNV deletion 19546169
esv2662522 CNV deletion 23128226
esv3576178 CNV gain 25503493
esv3609514 CNV loss 21293372
nsv1124091 CNV deletion 24896259
nsv1128260 CNV deletion 24896259
nsv527357 CNV gain 19592680
nsv603694 CNV loss 21841781
nsv950467 CNV duplication 24416366

Variation tolerance for SLC17A5 Gene

Residual Variation Intolerance Score: 21.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.29; 97.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC17A5 Gene

Human Gene Mutation Database (HGMD)
SLC17A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC17A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC17A5 Gene

Disorders for SLC17A5 Gene

MalaCards: The human disease database

(69) MalaCards diseases for SLC17A5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
salla disease
  • sd
infantile sialic acid storage disease
  • issd
intermediate severe salla disease
  • intermediate salla disease
sialuria
  • infantile sialic acid storage disease
scrub typhus
  • chigger-borne rickettsiosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S17A5_HUMAN
  • Salla disease (SD) [MIM:604369]: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. {ECO:0000269 PubMed:10581036, ECO:0000269 PubMed:10947946, ECO:0000269 PubMed:12794687, ECO:0000269 PubMed:21781115}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Infantile sialic acid storage disorder (ISSD) [MIM:269920]: Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. {ECO:0000269 PubMed:10581036, ECO:0000269 PubMed:10947946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC17A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC17A5: view

No data available for Genatlas for SLC17A5 Gene

Publications for SLC17A5 Gene

  1. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. (PMID: 10581036) Verheijen FW … Mancini GM (Nature genetics 1999) 2 3 4 23
  2. Functional characterization of wild-type and mutant human sialin. (PMID: 15510212) Morin P … Gasnier B (The EMBO journal 2004) 3 4 23
  3. Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. (PMID: 12794687) Martin RA … Gahl WA (American journal of medical genetics. Part A 2003) 3 4 23
  4. The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. (PMID: 10947946) Aula N … Peltonen L (American journal of human genetics 2000) 3 4 23
  5. Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. (PMID: 22778404) Qin L … Wang S (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4

ExternalLinks

View latest publications for SLC17A5 gene in Mastermind

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Sources for SLC17A5 Gene