HPDL (4-hydroxyphenylpyruvate dioxygenase like)

2014-11-01  

Identity

HGNC
HPDL
LOCATION
1p34.1
LOCUSID
84842
ALIAS
4-HPPD-L,GLOXD1,NEDSWMA,SPG83

Other Information

Locus ID:

NCBI: 84842
HGNC: 28242
Ensembl: ENSG00000186603

Variants:

dbSNP: 84842
ClinVar: 84842
TCGA: ENSG00000186603
COSMIC: HPDL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186603ENST00000334815Q96IR7

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

References

Pubmed IDYearTitleCitations
382869802024A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.0
382869802024A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.0
359856642022HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.3
359856642022HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.3
331883002021Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.11
339702002021Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.19
345153362021Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.1
331883002021Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.11
339702002021Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.19
345153362021Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.1

Citation

Dessen P

HPDL (4-hydroxyphenylpyruvate dioxygenase like)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64414/hpdl-(4-hydroxyphenylpyruvate-dioxygenase-like)