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)