LYRM7 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- LYRM7 (HGNC:28072) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- LYR motif containing 7
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C5orf31
- Alias symbols
- FLJ20796, MZM1L
- %HI
- 31.96(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.02(Read more about gnomAD pLI score)
- LOEUF
- 1.44(Read more about gnomAD LOEUF score)
- Cytoband
- 5q23.3-q31.1
- Genomic Coordinates
-
GRCh37/hg19: chr5:130506637-130541121 NCBI Ensembl UCSC GRCh38/hg38: chr5:131170944-131205428 NCBI Ensembl UCSC - MANE Select Transcript
- NM_181705.4 ENST00000379380.9 (Read more about MANE Select)
- Function
- Assembly factor required for Rieske Fe-S protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. Functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane. {ECO:0000269|PubMed:23168492}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-8303
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:
- mitochondrial complex III deficiency nuclear type 8 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)