PDSS2
entrez
57107
canonical
uniprot
Q86YH6
canonical
ensembl
ENSG00000164494
resolver
ensp
ENSP00000358027
resolver
ensp
ENSP00000358033
resolver
ensp
ENSP00000570138
resolver
ensp
ENSP00000570139
resolver
ensp
ENSP00000570140
resolver
ensp
ENSP00000570142
resolver
ensp
ENSP00000570145
resolver
ensp
ENSP00000604293
resolver
ensp
ENSP00000632967
resolver
genesymbol
PDSS2
resolver
genesymbol_syn
C6orf210
resolver
genesymbol_syn
DLP1
resolver
hgnc
HGNC:23041
resolver
uniprot
B4DKU5
resolver
uniprot
Q33DR4
resolver
uniprot
Q4G158
resolver
uniprot
Q5VU38
resolver
uniprot
Q5VU39
resolver
uniprot
Q9NR58
resolver
uniprot_entry
B4DKU5_HUMAN
resolver
uniprot_entry
DLP1_HUMAN
resolver
uniprot_sec
Q33DR4
resolver
uniprot_sec
Q4G158
resolver
uniprot_sec
Q5VU38
resolver
uniprot_sec
Q5VU39
resolver
uniprot_sec
Q9NR58
resolver
amino_acid_sequence
MNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFMSLRCLLSDELSNIAMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHIALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKVVELLASALMDLVQGVYHENSTSKESYITDDIGISTWKEQTFLSHGALLAKSCQAAMELAKHDAEVQNMAFQYGKHMAMSHKINSDVQPFIKEKTSDSMTFNLNSAPVVLHQEFLGRDLWIKQIGEAQEKGRLDYAKLRERIKAGKGVTSAIDLCRYHGNKALEALESFPPSEARSALENIVFAVTRFS
uniprot
proteins
disease_involvement
DISEASE: Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652]: A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. {ECO:0000269|PubMed:17186472}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.91
uniprot
proteins
function
FUNCTION: Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the side chain of ubiquinone (PubMed:16262699). Supplies nona and decaprenyl diphosphate, the precursors for the side chain of the isoprenoid quinones ubiquinone-9 (Q9) and ubiquinone-10 (Q10) respectively (PubMed:16262699). The enzyme adds isopentenyl diphosphate molecules sequentially to farnesyl diphosphate with trans stereochemistry (PubMed:16262699). May play a role during cerebellar development (By similarity). May regulate mitochondrial respiratory chain function (By similarity). {ECO:0000250|UniProtKB:Q33DR3, ECO:0000269|PubMed:16262699}.
uniprot
proteins
mass_dalton
44129
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. {ECO:0000269|PubMed:16262699}.
uniprot
proteins
protein_family
FPP/GGPP synthase family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16262699
uniprot
proteins
pubmed
17186472
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
34800366
uniprot
proteins
sequence_length
399
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:34800366}.
uniprot
proteins