PEX1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PEX1 (HGNC:8850) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- peroxisomal biogenesis factor 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ZWS1, ZWS
- Alias symbols
- No aliases found
- %HI
- 50.89(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.66(Read more about gnomAD LOEUF score)
- Cytoband
- 7q21.2
- Genomic Coordinates
-
GRCh37/hg19: chr7:92116339-92157834 NCBI Ensembl UCSC GRCh38/hg38: chr7:92487025-92528520 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000466.3 ENST00000248633.9 (Read more about MANE Select)
- Function
- Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling (PubMed:11439091, PubMed:16314507, PubMed:16854980, PubMed:21362118, PubMed:29884772). Specifically recognizes PEX5 monoubiquitinated at 'Cys-11', and pulls it out of the peroxisome lumen through the PEX2-PEX10-PEX12 retrotranslocation channel (PubMed:29884772). Extraction by the PEX1-PEX6 AAA A... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-13984
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- peroxisome biogenesis disorder Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000007.13)
(NC_000007.14)