SPG7
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SPG7 (HGNC:11237) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SPG7 matrix AAA peptidase subunit, paraplegin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CMAR
Alias symbols
CAR, SPG5C
%HI
61.82(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.55(Read more about gnomAD LOEUF score)
Cytoband
16q24.3
Genomic Coordinates
GRCh37/hg19: chr16:89574796-89624176 NCBI Ensembl UCSC
GRCh38/hg38: chr16:89508388-89557768 NCBI Ensembl UCSC
MANE Select Transcript
NM_003119.4 ENST00000645818.2 (Read more about MANE Select)
Function
ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function (PubMed:26387735). {ECO:0000269|PubMed:26387735, ECO:0000305}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9015
ClinGen Curation ID:
CCID:007932
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hereditary spastic paraplegia 7 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)