PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)

2014-11-01  

Identity

HGNC
PYROXD1
LOCATION
12p12.1
LOCUSID
79912
ALIAS
MFM8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79912
MIM: 617220
HGNC: 26162
Ensembl: ENSG00000121350

Variants:

dbSNP: 79912
ClinVar: 79912
TCGA: ENSG00000121350
COSMIC: PYROXD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121350ENST00000240651Q8WU10
ENSG00000121350ENST00000375266B5MDP1
ENSG00000121350ENST00000538582Q8WU10
ENSG00000121350ENST00000543476B4DEW4
ENSG00000121350ENST00000544187H0YGU0
ENSG00000121350ENST00000544970B4DEW4

Expression (GTEx)

0
5
10
15
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
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
277458332016Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.8
303459042018Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.4
305156272019Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy.3

Citation

Dessen P

PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72432/pyroxd1