• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MTFMT (HGNC:29666) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
mitochondrial methionyl-tRNA formyltransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FMT1
%HI
64.66(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.01(Read more about gnomAD LOEUF score)
Cytoband
15q22.31
Genomic Coordinates
GRCh37/hg19: chr15:65293850-65321977 NCBI Ensembl UCSC
GRCh38/hg38: chr15:65001512-65029639 NCBI Ensembl UCSC
MANE Select Transcript
NM_139242.4 ENST00000220058.9 (Read more about MANE Select)
Function
Methionyl-tRNA formyltransferase that formylates methionyl- tRNA in mitochondria and is crucial for translation initiation. {ECO:0000269|PubMed:21907147, ECO:0000269|PubMed:25288793}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10352
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:
  • combined oxidative phosphorylation defect type 15 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000015.9) (NC_000015.10)