HPDL
entrez
84842
canonical
uniprot
Q96IR7
canonical
ensembl
ENSG00000186603
resolver
ensp
ENSP00000335060
resolver
enst
ENST00000334815
resolver
genesymbol
HPDL
resolver
genesymbol_syn
GLOXD1
resolver
hgnc
HGNC:28242
resolver
uniprot
B2R9B0
resolver
uniprot_entry
HPDL_HUMAN
resolver
uniprot_sec
B2R9B0
resolver
amino_acid_sequence
MAAPALRLCHIAFHVPAGQPLARNLQRLFGFQPLASREVDGWRQLALRSGDAVFLVNEGAGSGEPLYGLDPRHAVPSATNLCFDVADAGAATRELAALGCSVPVPPVRVRDAQGAATYAVVSSPAGILSLTLLERAGYRGPFLPGFRPVSSAPGPGWVSRVDHLTLACTPGSSPTLLRWFHDCLGFCHLPLSPGEDPELGLEMTAGFGLGGLRLTALQAQPGSIVPTLVLAESLPGATTRQDQVEQFLARHKGPGLQHVGLYTPNIVEATEGVATAGGQFLAPPGAYYQQPGKERQIRAAGHEPHLLARQGILLDGDKGKFLLQVFTKSLFTEDTFFLELIQRQGATGFGQGNIRALWQSVQEQSARSQEA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA) [MIM:619026]: An autosomal recessive neurodevelopmental disorder characterized by developmental delay manifesting in infancy, inability to walk independently, mild to severe intellectual disability, poor overall growth, progressive microcephaly, and axial hypotonia. Additional variable features include brainstem and cerebellar involvement, seizures, joint contractures, ocular disturbances, episodic respiratory failure, and facial dysmorphism. {ECO:0000269|PubMed:32707086, ECO:0000269|PubMed:33634263}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 83, autosomal recessive (SPG83) [MIM:619027]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG83 is characterized by juvenile onset of progressive lower limb spasticity resulting in gait instability. {ECO:0000269|PubMed:32707086}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.13.11.46
uniprot
proteins
function
FUNCTION: Iron-dependent dioxygenase that catalyzes the conversion of 4-hydroxyphenylpyruvate (4-HPPA) to 4-hydroxymandelate (4-HMA) in the mitochondria, one of the steps in the biosynthesis of coenzyme Q10 from tyrosine. {ECO:0000269|PubMed:34471290}.
uniprot
proteins
mass_dalton
39386
uniprot
proteins
mutagenesis
MUTAGEN 258; /note="H->A: Loss of 4-HPPA dioxygenase activity. Impaired cell 3D growth."; /evidence="ECO:0000269|PubMed:34471290
uniprot
proteins
protein_family
4HPPD family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
32707086
uniprot
proteins
pubmed
33634263
uniprot
proteins
pubmed
34471290
uniprot
proteins
sequence_length
371
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:32707086, ECO:0000269|PubMed:34471290}.
uniprot
proteins