PDSS2 - decaprenyl diphosphate synthase subunit 2 Gene

Also Known as DLP1; COQ1B; hDLP1; COQ10D3; C6orf210; bA59I9.3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57107

About PDSS2

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:107,152,562-107,459,564 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 6.5), adrenal (RPKM 5.0) and 25 other tissues.

Summary

The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]

PDSS2 Products (1)

mRNA	Protein	Name
NM_020381.4	NP_065114.3	all trans-polyprenyl-diphosphate synthase PDSS2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to all-trans-decaprenyl-diphosphate synthase activity	IDA IDA: Inferred from direct assay	16262699	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16262699	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in isoprenoid biosynthetic process	IDA IDA: Inferred from direct assay	16262699	GOA
involved in ubiquinone biosynthetic process	IDA IDA: Inferred from direct assay	16262699	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of heterotetrameric polyprenyl diphosphate synthase complex	IDA IDA: Inferred from direct assay	16262699	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDSS2 Protein Structure

polyprenyl_synt

0
100
200
300
399 a.a.

Protein Preferred Names	Protein Names
all trans-polyprenyl-diphosphate synthase PDSS2	all-trans-decaprenyl-diphosphate synthase subunit 2

Related Diseases

Diseases	Alias
Coenzyme Q10 Deficiency, Primary, 3	COQ10D3 Primary Coenzyme Q10 Deficiency 3 Coenzyme Q10 Deficiency, Primary, Type 3
Leigh Syndrome With Nephrotic Syndrome	Infantile Subacute Necrotizing Encephalopathy With Nephrotic Syndrome Leigh Disease With Nephrotic Syndrome
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Coenzyme Q10 Deficiency, Primary, 6	Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness COQ10D6 Primary Coenzyme Q10 Deficiency 6 Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Hearing Loss Srns With Sensorineural Deafness Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness Coenzyme Q10 Deficiency, Primary, Type 6
Coenzyme Q10 Deficiency Disease	Coenzyme Q10 Deficiency Coq10 Deficiency Primary Coenzyme Q10 Deficiency Coenzyme Q Deficiency Coq Deficiency Primary Coq10 Deficiency Ubiquinone Deficiency Coenzyme Q10 Deficiency, Primary Coq10 Deficiency, Primary
Periodic Limb Movement Disorder	Nocturnal Myoclonus Syndrome Nocturnal Myoclonus
Coenzyme Q10 Deficiency, Primary, 5	Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome COQ10D5 Primary Coenzyme Q10 Deficiency 5 Coenzyme Q10 Deficiency, Primary, Type 5
Rem Sleep Behavior Disorder	Rapid Eye Movement Sleep Behavior Disorder Rem Sleep Behaviour Disorder Rapid Eye Movement Sleep Behaviour Disorder Rem - [Rapid Eye Movement] Behaviour Disorder
Thoracic Outlet Syndrome	Tos Tos - Thoracic Outlet Syndrome Thoracic Outlet Syndromes Thoracic Outlet Compression Syndrome
Frasier Syndrome	FS
Sleep Disorder	Sleep Disorders Non-Organic Sleep Disorder
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Visual Cortex Disease	Visual Cortex Dysfunction Visual Cortex Disorder Visual Cortical Disorder Disease Of Visual Cortex
Cardiofaciocutaneous Syndrome 1	Cardiofaciocutaneous Syndrome Cfc Syndrome Cardio-Facio-Cutaneous Syndrome CFC1 Cfcs Cardio-Facial-Cutaneous Syndrome Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure Cardiofaciocutaneous Syndrome, Type 1
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Mitochondrial Encephalomyopathy	Mitochondrial Encephalomyopathies Encephalomyopathy, Mitochondrial
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10294	PDSS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22715	Pdss2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29229	Pdss2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PDSS2	VGNC	VGNC:44395
Macaca mulatta	PDSS2	VGNC	VGNC:75849
Bos taurus	PDSS2	VGNC	VGNC:32720
Mus musculus	PDSS2	MGD	MGI:1918615
Rattus norvegicus	PDSS2	RGD	RGD:1359372
Others	PDSS2	NCBI