Basic Information

Symbol
SLC17A5
RNA class
mRNA
Alias
Solute Carrier Family 17 Member 5 AST SIALIN ISSD NSD SLD SD Solute Carrier Family 17 (Acidic Sugar Transporter), Member 5 Solute Carrier Family 17 (Anion/Sugar Transporter), Member 5 Vesicular Excitatory Amino Acid Transporter Infantile Sialic Acid Storage Disorder H(+)/Sialic Acid Cotransporter Sialic Acid Storage Disease H(+)/Nitrate Cotransporter Membrane Glycoprotein HP59 Acidic Sugar Transporter SIASD VEAT Vesicular H(+)/Aspartate-Glutamate Cotransporter Sodium/Sialic Acid Cotransporter Salla Disease Sialin
Location (GRCh38)
6:73593364-73654014
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_012434.5
Sequence length
3292.0 nt
GC content
0.4353

Transcripts

ID Sequence Length GC content
NM_001382629.1 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3095 nt 0.4378
NM_001382630.1 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3201 nt 0.4339
NM_001382631.1 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3313 nt 0.4356
NM_001382632.1 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3205 nt 0.4374
NM_001382633.1 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3390 nt 0.4392
NM_001382634.1 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3133 nt 0.4376
NM_001382635.1 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3289 nt 0.4351
NM_001382636.1 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3008 nt 0.4402
NM_012434.5 NCBI
GCCCCCGCCCCGCCCGGUCCAGCCAGCUCGGCCCGGGGGCUUCGGGCUG… 3292 nt 0.4353
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. [provided by RefSeq, Jul 2008]

Forensic Context

No relevant information is available at the moment.