PNPLA6 - patatin like phospholipase domain containing 6 Gene

Also Known as NTE; sws; BNHS; LNMS; OMCS; SPG39; NTEMND; iPLA2delta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10908

About PNPLA6

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:7,534,164-7,561,767 (from NCBI)

This gene has 25 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 11 phenotypes. Ubiquitous expression in lung (RPKM 16.4), testis (RPKM 15.9) and 25 other tissues.

Summary

This gene encodes a Phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

PNPLA6 Products (5)

mRNA	Protein	Name
NM_001166111.2	NP_001159583.1	patatin-like phospholipase domain-containing protein 6 isoform a
NM_001166112.2	NP_001159584.1	patatin-like phospholipase domain-containing protein 6 isoform c
NM_001166113.1	NP_001159585.1	patatin-like phospholipase domain-containing protein 6 isoform b
NM_001166114.2	NP_001159586.1	patatin-like phospholipase domain-containing protein 6 isoform d
NM_006702.5	NP_006693.3	patatin-like phospholipase domain-containing protein 6 isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables lysophospholipase activity	EXP EXP: Inferred from Experiment	12514188	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

PNPLA6 Protein Structure

cNMP_binding

Patatin

0
300
600
900
1200
1375 a.a.

Protein Preferred Names	Protein Names
patatin-like phospholipase domain-containing protein 6	neuropathy target esterase

Related Diseases

Diseases	Alias
Laurence-Moon Syndrome	LNMS Laurence-Moon-Biedl Syndrome
Oliver-Mcfarlane Syndrome	Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome OMCS Long Eyelashes-Intellectual Disability Syndrome Trichomegaly With Mental Retardation, Dwarfism, And Pigmentary Degeneration Of Retina Eyelashes, Long, With Mental Retardation Eyelashes Long Mental Retardation Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Trichomegaly With Intellectual Disability, Dwarfism And Pigmentary Degeneration Of Retina Eyelashes, Long With Intellectual Disability Oliver Mcfarlane Syndrome Congenital Trichomegaly, Pigmentary Retinal Degeneration, And Short Stature Trichomegaly, Retina Pigmentary Degeneration, Dwarfism Trichomegaly Retina Pigmentary Degeneration Dwarfism
Boucher-Neuhauser Syndrome	Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome BNHS Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy Boucher-Neuhäuser Syndrome Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism Ataxia - Hypogonadism - Choroidal Dystrophy Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism Bns Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome Boucher Neuhauser Syndrome
Spastic Paraplegia 39, Autosomal Recessive	SPG39 Ntemnd Hereditary Spastic Paraplegia 39 Nte-Related Motor Neuron Disorder Autosomal Recessive Spastic Paraplegia Type 39 Spastic Paraplegia Due To Neuropathy Target Esterase Mutation Spastic Paraplegia Due To Nte Mutation Spastic Paraplegia 39 Autosomal Recessive Spastic Paraplegia 39 Nte Related Motor Neuron Disorder Paraplegia, Spastic, Type 39
Spastic Ataxia	Spax Ataxia, Spastic
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Kallmann Syndrome 1 Dysplasia Olfactogenitalis Of De Morsier Kal1 HH1 Kms Hypogonadotropic Hypogonadism And Anosmia Hha Anosmic Hypogonadism Kallmann Syndrome, X-Linked Kallmann Syndrome, Type 1, X-Linked Kallmann Syndrome, Type 1, X Linked Hypogonadism, Hypogonadotropic, Type 1, With/Without Anosmia ) Kallmann Syndrome
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
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
Sick Building Syndrome
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Polyneuropathy	Polyneuropathies
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Idiopathic Hypogonadotropic Hypogonadism HH7 Hypogonadism, Isolated Hypogonadotropic Ihh Hypogonadism, Isolated, Hypogonadotropic Hypogonadotropic Hypogonadism Isolated Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism 7 Without Anosmia Congenital Hypogonadotropic Hypogonadism Normosmic Hh Klinefelter Syndrome Isolated Gonadotropin Deficiency
Trichomegaly	Long Eyelashes TCMGLY Goldstein Hutt Syndrome Eyelashes, Long Movie Lashes
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Hypogonadism
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Spastic Paraplegia 28, Autosomal Recessive	SPG28 Hereditary Spastic Paraplegia 28 Autosomal Recessive Spastic Paraplegia Type 28 Autosomal Recessive Spastic Paraplegia 28 Paraplegia, Spastic, Type 28, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive	Troyer Syndrome SPG20 Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting Spastic Paraplegia, Autosomal Recessive, Troyer Type Autosomal Recessive Spastic Paraplegia Type 20 Autosomal Recessive Hereditary Spastic Paraplegia Spastic Paraplegia 20 Cross-Mckusick Syndrome Autosomal Recessive Spastic Paraplegia 20 Autosomal Recessive Spastic Paraplegia Troyer Type Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting Hereditary Spastic Paraplegia 20 Spastic Paraplegia Type 20 Hereditary Spastic Paraplegia Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting Spastic Paraplegia Autosomal Recessive Troyer Type Trs Spastic Paraplegia Hereditary Autosomal Recessive Spastic Paraplegia, Hereditary
Glandular Tularemia
Spastic Paraplegia 43, Autosomal Recessive	SPG43 Hereditary Spastic Paraplegia 43 Autosomal Recessive Spastic Paraplegia Type 43 Autosomal Recessive Spastic Paraplegia 43 Paraplegia, Spastic, Type 43, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive	SPG78 Autosomal Recessive Spastic Paraplegia Type 78 Hereditary Spastic Paraplegia 78 Spastic Paraplegia 78 Autosomal Recessive Doid:0112348
Spastic Paraplegia 75, Autosomal Recessive	SPG75 Hereditary Spastic Paraplegia 75 Autosomal Recessive Spastic Paraplegia Type 75 Autosomal Recessive Spastic Paraplegia 75
Spastic Paraplegia 73, Autosomal Dominant	SPG73 Hereditary Spastic Paraplegia 73 Autosomal Dominant Spastic Paraplegia Type 73 Autosomal Dominant Spastic Paraplegia 73 Paraplegia, Spastic, Autosomal Dominant, Type 73
Spastic Paraplegia 54, Autosomal Recessive	SPG54 Hereditary Spastic Paraplegia 54 Autosomal Recessive Spastic Paraplegia Type 54 Autosomal Recessive Spastic Paraplegia 54 Paraplegia, Spastic, Type 54, Autosomal Recessive
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Pharc Syndrome PHARC Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Peripheral Neuropathy, Fiskerstrand Type Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Spastic Paraplegia 42, Autosomal Dominant	SPG42 Hereditary Spastic Paraplegia 42 Autosomal Dominant Spastic Paraplegia Type 42 Autosomal Dominant Spastic Paraplegia 42 Paraplegia, Spastic, Type 42, Autosomal Dominant
Spastic Paraplegia 79, Autosomal Recessive	Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome SPG79 Neurodegeneration With Optic Atrophy, Childhood-Onset Ndgoa Hereditary Spastic Paraplegia 79 Spastic Paraplegia 79 Autosomal Recessive Doid:0112344 Neurodegeneration, With Optic Atrophy, Childhood-Onset
Spastic Paraplegia 48, Autosomal Recessive	SPG48 Hereditary Spastic Paraplegia 48 Autosomal Recessive Spastic Paraplegia Type 48 Autosomal Recessive Spastic Paraplegia 48 Paraplegia, Spastic, Type 48, Autosomal Recessive
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Sjogren-Larsson Syndrome	Sjögren-Larsson Syndrome SLS Faldh Deficiency Fatty Aldehyde Dehydrogenase Deficiency Fatty Acid Alcohol Oxidoreductase Deficiency Ichthyosis, Spastic Neurologic Disorder, And Oligophrenia Sjogren Larsson Syndrome Fatty Alcohol:Nad+ Oxidoreductase Deficiency Sjogren-Larsson'S Syndrome Fadh Deficiency Fao Deficiency Congenital Icthyosis Mental Retardation Spasticity Syndrome Ichthyosis Oligophrenia Syndrome Sjoegren-Larsson Syndrome
Retinal Degeneration	Degeneration Of Retina
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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-RS10797	PNPLA6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20581	Pnpla6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27089	Pnpla6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PNPLA6	VGNC	VGNC:64267
Bos taurus	PNPLA6	VGNC	VGNC:33093
Rattus norvegicus	PNPLA6	RGD	RGD:1564611
Macaca mulatta	PNPLA6	VGNC	VGNC:76034
Mus musculus	PNPLA6	MGD	MGI:1354723
Canis familiaris	PNPLA6	VGNC	VGNC:44756