MPZ |
Gene Facts External Data Attribution
- HGNC Symbol
- MPZ (HGNC:7225) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- myelin protein zero
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CMT1, CMT1B
- Alias symbols
- HMSNIB, CMT2I, CMT2J, P0
- %HI
- 28.19(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.27(Read more about gnomAD pLI score)
- LOEUF
- 0.64(Read more about gnomAD LOEUF score)
- Cytoband
- 1q23.3
- Genomic Coordinates
-
GRCh37/hg19: chr1:161274525-161279758 NCBI Ensembl UCSC GRCh38/hg38: chr1:161303600-161309968 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000530.8 ENST00000533357.5 (Read more about MANE Select)
- Function
- Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction. {ECO:0000269|PubMed:10545037, ECO:0000269|PubMed:18337304}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-5800
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)