SLC13A5 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC13A5 (HGNC:23089) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 13 member 5
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- NACT, INDY, mINDY
- %HI
- 66.88(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.67(Read more about gnomAD LOEUF score)
- Cytoband
- 17p13.1
- Genomic Coordinates
-
GRCh37/hg19: chr17:6588038-6616688 NCBI Ensembl UCSC GRCh38/hg38: chr17:6684719-6713369 NCBI Ensembl UCSC - MANE Select Transcript
- NM_177550.5 ENST00000433363.7 (Read more about MANE Select)
- Function
- High-affinity sodium/citrate cotransporter that mediates the entry of citrate into cells, which is a critical participant of biochemical pathways (PubMed:12445824, PubMed:26324167, PubMed:26384929, PubMed:30054523, PubMed:33597751, PubMed:12826022). May function in various metabolic processes in which citrate has a critical role such as energy production (Krebs cycle), fatty acid synthesis, cholesterol synthesis, glycolysis, and gluconeogenesis (PubMed:12826022). Transports citrate into the cell... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31646
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:
- developmental and epileptic encephalopathy, 25 Monarch
HI Evidence:
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)