SLC25A19

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SLC25A19 (HGNC:14409) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
solute carrier family 25 member 19
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MCPHA
Alias symbols
DNC, MUP1, TPC
%HI
55.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.65(Read more about gnomAD pLI score)
LOEUF
0.52(Read more about gnomAD LOEUF score)
Cytoband
17q25.1
Genomic Coordinates
GRCh37/hg19: chr17:73269073-73285514 NCBI Ensembl UCSC
GRCh38/hg38: chr17:75272992-75289433 NCBI Ensembl UCSC
MANE Select Transcript
NM_001126121.2 ENST00000416858.7 (Read more about MANE Select)
Function
Mitochondrial transporter mediating uptake of thiamine diphosphate into mitochondria. It is not clear if the antiporter activity is affected by the membrane potential or by the proton electrochemical gradient. {ECO:0000269|PubMed:17035501, ECO:0000269|PubMed:18280798, ECO:0000269|PubMed:27188525, ECO:0000269|PubMed:34587972}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28795
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • thiamine-responsive dysfunction syndrome Monarch
HI Evidence Comments:
Biallelic variants in the SLC25A19 gene have been associated with the diseases Thiamine metabolism dysfunction syndrome 4 and Microcephaly, Amish type in OMIM. These diseases have significant phenotypic overlap so a more general MONDO term, thiamine-responsive dysfunction syndrome (MONDO:0000152), 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_000017.10) (NC_000017.11)