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)