PRX (periaxin)

2014-11-01  

Identity

HGNC
PRX
LOCATION
19q13.2
LOCUSID
57716
ALIAS
CMT4F
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57716
MIM: 605725
HGNC: 13797
Ensembl: ENSG00000105227

Variants:

dbSNP: 57716
ClinVar: 57716
TCGA: ENSG00000105227
COSMIC: PRX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105227ENST00000291825Q9BXM0
ENSG00000105227ENST00000324001Q9BXM0

Expression (GTEx)

0
100
200
300
400
500
600
700
800
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
eye
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
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
121120762002Periaxin mutations cause a broad spectrum of demyelinating neuropathies.23
210791852010Four novel cases of periaxin-related neuropathy and review of the literature.11
165341162006Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene.10
228471502012Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.10
151976042004Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.7
217412412011Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.7
167705242006Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.6
260598422016The use of whole-exome sequencing to disentangle complex phenotypes.6
270812072016Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.5

Citation

Dessen P

PRX (periaxin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72322/prx