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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)