MPZ (myelin protein zero)

2014-11-01  

Identity

HGNC
MPZ
LOCATION
1q23.3
LOCUSID
4359
ALIAS
CHM,CHN2,CMT1,CMT1B,CMT2I,CMT2J,CMT4E,CMTDI3,CMTDID,DSS,HMSNIB,MPP,P0

Other Information

Locus ID:

NCBI: 4359
MIM: 159440
HGNC: 7225
Ensembl: ENSG00000158887

Variants:

dbSNP: 4359
ClinVar: 4359
TCGA: ENSG00000158887
COSMIC: MPZ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000158887ENST00000463290P25189
ENSG00000158887ENST00000491222E9PL80
ENSG00000158887ENST00000526189A0A0J9YWT2
ENSG00000158887ENST00000533357P25189

Expression (GTEx)

0
1000
2000
3000
4000
5000
6000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Cell adhesion molecules (CAMs)KEGGhsa04514

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
118353752002Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.33
224573492012L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough.28
164140782006Peripheral neuropathies caused by mutations in the myelin protein zero.23
224908682012Defective autoimmune regulator-dependent central tolerance to myelin protein zero is linked to autoimmune peripheral neuropathy.22
168561272006Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.17
183373042008Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations.15
171422692007Cytoplasmic domain of human myelin protein zero likely folded as beta-structure in compact myelin.14
222752552012Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.14
263106282015Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.14
217878902011Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.12

Citation

Dessen P

MPZ (myelin protein zero)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70401/mpz