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MPC1L |
Gene Facts External Data Attribution
- HGNC Symbol
- MPC1L (HGNC:44205) HGNC Entrez Ensembl OMIM Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- mitochondrial pyruvate carrier 1 like
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SLC54A3
- %HI
- 0(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- Cytoband
- Xp11.4
- Genomic Coordinates
-
GRCh37/hg19: chrX:40482680-40483388 NCBI Ensembl UCSC GRCh38/hg38: chrX:40623428-40624136 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001195522.3 ENST00000423387.4 (Read more about MANE Select)
- Function
- Mediates the uptake of pyruvate into mitochondria. {ECO:0000269|PubMed:27317664}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-45963
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000023.10)
(NC_000023.11)
