PHYH (phytanoyl-CoA 2-hydroxylase)

2014-11-01  

Identity

HGNC
PHYH
LOCATION
10p13
LOCUSID
5264
ALIAS
LN1,LNAP1,PAHX,PHYH1,RD

Other Information

Locus ID:

NCBI: 5264
MIM: 602026
HGNC: 8940
Ensembl: ENSG00000107537

Variants:

dbSNP: 5264
ClinVar: 5264
TCGA: ENSG00000107537
COSMIC: PHYH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107537ENST00000263038O14832
ENSG00000107537ENST00000396913O14832
ENSG00000107537ENST00000396920B1ALH6
ENSG00000107537ENST00000453759C9IYS5
ENSG00000107537ENST00000479604C9JR86

Expression (GTEx)

0
50
100
150
200
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
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Peroxisomal lipid metabolismREACTOMER-HSA-390918
Alpha-oxidation of phytanateREACTOMER-HSA-389599

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
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
161861242005Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.30
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
149740782004Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).16
159305192005Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.5
129232232003Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?3
186127662008Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition.0
286816092017Cochlear Implantation in Siblings With Refsum's Disease.0

Citation

Dessen P

PHYH (phytanoyl-CoA 2-hydroxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71896/phyh