Sialin

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, is a protein which in humans is encoded by the SLC17A5 gene.[5][6][7]

AliasesSLC17A5, AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, solute carrier family 17 member 5
End73,653,992 bp[1]
Quick facts SLC17A5, Identifiers ...
SLC17A5
Identifiers
AliasesSLC17A5, AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, solute carrier family 17 member 5
External IDsOMIM: 604322; MGI: 1924105; HomoloGene: 56571; GeneCards: SLC17A5; OMA:SLC17A5 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012434

NM_001276452
NM_172773

RefSeq (protein)

NP_001263381
NP_766361

Location (UCSC)Chr 6: 73.59 – 73.65 MbChr 9: 78.44 – 78.5 Mb
PubMed search[3][4]
Wikidata
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Clinical significance

A deficiency of this protein causes Salla disease.[7][8] and Infantile Sialic Acid Storage Disease (ISSD).

The gene for HP59 contains, entirely within its coding region, the Sialin Gene SLC17A5. Member 5, also known as SLC17A5 or sialin is a lysosomal membrane sialic acid transport protein which in humans is encoded by the SLC17A5 gene on Chromosome 6[9][10][11]

See also

References

Further reading

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