LRPPRC
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LRPPRC (HGNC:15714) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
leucine rich pentatricopeptide repeat containing
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
LSFC
Alias symbols
GP130, LRP130
%HI
34.01(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.81(Read more about gnomAD LOEUF score)
Cytoband
2p21
Genomic Coordinates
GRCh37/hg19: chr2:44113363-44223128 NCBI Ensembl UCSC
GRCh38/hg38: chr2:43886224-43996265 NCBI Ensembl UCSC
MANE Select Transcript
NM_133259.4 ENST00000260665.12 (Read more about MANE Select)
Function
May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are possibly associated with nuclear mRNA export. Positively modulates nuclear export of mRNAs containing the EIF4E sensitivity element (4ESE) by binding simultaneously to both EIF4E and the 4ESE and acting as a platform for assembly for the RNA export complex (PubMed:19262567, PubMed:28325843). Also bind... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25314
ClinGen Curation ID:
CCID:007421
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
03/20/2017

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)