SLC17A5
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC17A5 (HGNC:10933) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 17 member 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SIASD
Alias symbols
AST, SD, ISSD, NSD, SIALIN, SLD
%HI
19.72(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.07(Read more about gnomAD LOEUF score)
Cytoband
6q13
Genomic Coordinates
GRCh37/hg19: chr6:74303102-74363715 NCBI Ensembl UCSC
GRCh38/hg38: chr6:73593379-73653992 NCBI Ensembl UCSC
MANE Select Transcript
NM_012434.5 ENST00000355773.6 (Read more about MANE Select)
Function
Multifunctional anion transporter that operates via two distinct transport mechanisms, namely proton-coupled anion cotransport and membrane potential-dependent anion transport (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254). Electroneutral proton-coupled acidic monosaccharide symporter, with a sugar to proton stoichiometry of 1:1. Exports glucuronic acid and free sialic acid derived from sialoglycoconjugate degradation out of lysosomes, driven by outwardly directed lysosomal... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28996
ClinGen Curation ID:
CCID:007863
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • free sialic acid storage disease Monarch
HI Evidence Comments:
Biallelic variants in the SLC17A5 gene have been associated with the diseases Infantile sialic acid storage disorder; Sialuria, Finnish type (Salla disease) in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, free sialic acid storage disease (MONDO:0019366), has been selected for this curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)