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Aliases for PNPLA6 Gene

Aliases for PNPLA6 Gene

  • Patatin Like Phospholipase Domain Containing 6 2 3 5
  • Patatin-Like Phospholipase Domain-Containing Protein 6 3 4
  • Neuropathy Target Esterase 2 3
  • EC 3.1.1.5 4 61
  • NTE 3 4
  • Patatin-Like Phospholipase Domain Containing 6 2
  • IPLA2delta 3
  • NTEMND 3
  • SPG39 3
  • BNHS 3
  • LNMS 3
  • OMCS 3
  • SWS 3

External Ids for PNPLA6 Gene

Previous GeneCards Identifiers for PNPLA6 Gene

  • GC19P007506
  • GC19P007270
  • GC19P007598

Summaries for PNPLA6 Gene

Entrez Gene Summary for PNPLA6 Gene

  • 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]

GeneCards Summary for PNPLA6 Gene

PNPLA6 (Patatin Like Phospholipase Domain Containing 6) is a Protein Coding gene. Diseases associated with PNPLA6 include Laurence-Moon Syndrome and Spastic Paraplegia 39, Autosomal Recessive. Among its related pathways are PI Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include lysophospholipase activity. An important paralog of this gene is PNPLA7.

UniProtKB/Swiss-Prot for PNPLA6 Gene

  • Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.

Gene Wiki entry for PNPLA6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNPLA6 Gene

Genomics for PNPLA6 Gene

Regulatory Elements for PNPLA6 Gene

Enhancers for PNPLA6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G007543 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +10.7 10723 3.2 BCOR ZMYM3 CEBPB BCL11B NR2F2 FOSL1 BCL11A SCRT2 ZBTB33 EGR2 MCOLN1 MCEMP1 PEX11G PNPLA6 STXBP2 RETN GC19M007532 CAMSAP3
GH19G007700 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.7 +170.5 170484 7.0 HDGF PKNOX1 YBX1 ELK1 ZNF143 ZNF207 JUNB TBX21 ZNF610 NBN STXBP2 FCER2 PEX11G CD209 CLEC4G RPL21P129 MCEMP1 MCOLN1 PNPLA6 RAB11B-AS1
GH19G007678 1.5 FANTOM5 ENCODE 6.1 +146.7 146692 3.6 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF207 ZNF143 KLF13 ELAVL1 HNRNPM XAB2 STXBP2 ZNF557 ZNF414 MCEMP1 PEX11G MCOLN1 ARHGEF18
GH19G007512 0.7 ENCODE 12.2 -21.2 -21164 0.9 HDAC1 NFYA CEBPB ZNF398 FOXM1 GATA3 ATF3 ZNF366 POLR2A NFYB PNPLA6 ARHGEF18 PEX11G ELAVL1 ZNF358 ENSG00000267952
GH19G007554 0.7 ENCODE 12.1 +21.2 21181 1.1 ESRRA KLF1 ZBTB7B GATA3 POLR2A PCBP1 KLF8 EGR2 ZNF687 SP2 CAMSAP3 PNPLA6 GC19M007532
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PNPLA6 on UCSC Golden Path with GeneCards custom track

Promoters for PNPLA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106684 948 3001 HDGF PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1
ENSR00000106684 1096 3001 HDGF PKNOX1 MLX CREB3L1 AGO1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for PNPLA6 Gene

Chromosome:
19
Start:
7,534,004 bp from pter
End:
7,561,767 bp from pter
Size:
27,764 bases
Orientation:
Plus strand

Genomic View for PNPLA6 Gene

Genes around PNPLA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNPLA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNPLA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNPLA6 Gene

Proteins for PNPLA6 Gene

  • Protein details for PNPLA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY17-PLPL6_HUMAN
    Recommended name:
    Neuropathy target esterase
    Protein Accession:
    Q8IY17
    Secondary Accessions:
    • A6NGQ0
    • B4DFB9
    • B7Z7T2
    • F5H5K9
    • J3KQS3
    • O60859
    • Q86W58
    • Q9UG58

    Protein attributes for PNPLA6 Gene

    Size:
    1366 amino acids
    Molecular mass:
    149995 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PNPLA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNPLA6 Gene

Selected DME Specific Peptides for PNPLA6 Gene

Q8IY17:
  • RQADCILIVGLGDQEP
  • VLNGRLR
  • SLLSILDVITGH
  • WRYVRASM
  • LVLGGGGARG
  • DRHSDFSRLARVLTGN
  • GGTSIGSF
  • DLTYPVTS
  • CVRQLEVVKSS
  • QIEDLWLPYF
  • SDCTYIVL

Post-translational modifications for PNPLA6 Gene

Domains & Families for PNPLA6 Gene

Gene Families for PNPLA6 Gene

Suggested Antigen Peptide Sequences for PNPLA6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY17

UniProtKB/Swiss-Prot:

PLPL6_HUMAN :
  • Belongs to the NTE family.
Family:
  • Belongs to the NTE family.
genes like me logo Genes that share domains with PNPLA6: view

Function for PNPLA6 Gene

Molecular function for PNPLA6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
2-lysophosphatidylcholine + H(2)O = glycerophosphocholine + a carboxylate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon.
UniProtKB/Swiss-Prot Function:
Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Its specific chemical modification by certain organophosphorus (OP) compounds leads to distal axonopathy.

Enzyme Numbers (IUBMB) for PNPLA6 Gene

Gene Ontology (GO) - Molecular Function for PNPLA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity EXP,IBA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PNPLA6: view
genes like me logo Genes that share phenotypes with PNPLA6: view

Human Phenotype Ontology for PNPLA6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PNPLA6 Gene

MGI Knock Outs for PNPLA6:

Animal Model Products

CRISPR Products

miRNA for PNPLA6 Gene

miRTarBase miRNAs that target PNPLA6

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for PNPLA6 Gene

Localization for PNPLA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNPLA6 Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein; Cytoplasmic side. Note=Anchored to the cytoplasmic face of the endoplasmic reticulum by its N-terminal transmembrane segment. {ECO:0000269 PubMed:15044461}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PNPLA6 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PNPLA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PNPLA6: view

Pathways & Interactions for PNPLA6 Gene

genes like me logo Genes that share pathways with PNPLA6: view

Pathways by source for PNPLA6 Gene

Gene Ontology (GO) - Biological Process for PNPLA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0009887 animal organ morphogenesis IEA --
GO:0016042 lipid catabolic process IEA --
GO:0032502 developmental process IBA --
genes like me logo Genes that share ontologies with PNPLA6: view

No data available for SIGNOR curated interactions for PNPLA6 Gene

Drugs & Compounds for PNPLA6 Gene

(16) Drugs for PNPLA6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Choline alfoscerate Experimental Pharma 0
MYRISTIC ACID Experimental Pharma 0
Palmitic Acid Experimental Pharma Full agonist, Agonist 22
Stearic acid Experimental Pharma 0

(41) Additional Compounds for PNPLA6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachate
  • Arachic acid
  • Arachidate
  • Arachidic acid
  • Eicosanoate
506-30-9
Heptadecanoic acid
  • Heptadecanoate
  • Heptadecanoic acid
  • Margarate
  • Margaric acid
  • Margarinate
506-12-7
Heptadecanoyl CoA
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid coa
  • Heptadecanoyl coenzyme A
  • Heptadecanoyl-coA
3546-17-6
PC(18:1(9Z)e/2:0)
  • (2-acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Pentadecanoic acid
  • N-Pentadecanoate
  • N-Pentadecanoic acid
  • N-Pentadecylate
  • N-Pentadecylic acid
  • Pentadecanoate
1002-84-2
genes like me logo Genes that share compounds with PNPLA6: view

Transcripts for PNPLA6 Gene

Unigene Clusters for PNPLA6 Gene

Patatin-like phospholipase domain containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNPLA6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a ·
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7: - - - -
SP8: -
SP9:
SP10:
SP11: - - - - -
SP12: - -
SP13: -
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19: -
SP20:

ExUns: 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32a ·
SP1:
SP2: -
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10: -
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

ExUns: 32b ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36 ^ 37
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:

Relevant External Links for PNPLA6 Gene

GeneLoc Exon Structure for
PNPLA6
ECgene alternative splicing isoforms for
PNPLA6

Expression for PNPLA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNPLA6 Gene

mRNA differential expression in normal tissues according to GTEx for PNPLA6 Gene

This gene is overexpressed in Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for PNPLA6 Gene

This gene is overexpressed in Nasal epithelium (31.3) and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PNPLA6 Gene



Protein tissue co-expression partners for PNPLA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PNPLA6 Gene:

PNPLA6

SOURCE GeneReport for Unigene cluster for PNPLA6 Gene:

Hs.631863

mRNA Expression by UniProt/SwissProt for PNPLA6 Gene:

Q8IY17-PLPL6_HUMAN
Tissue specificity: Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain.

Evidence on tissue expression from TISSUES for PNPLA6 Gene

  • Nervous system(5)
  • Intestine(4.3)
  • Liver(4.3)
  • Lung(2.8)
  • Lymph node(2.7)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PNPLA6 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PNPLA6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PNPLA6 Gene

Orthologs for PNPLA6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PNPLA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNPLA6 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia PNPLA6 34 35
  • 89.24 (n)
cow
(Bos Taurus)
Mammalia PNPLA6 34 35
  • 88.96 (n)
rat
(Rattus norvegicus)
Mammalia Pnpla6 34
  • 86.93 (n)
mouse
(Mus musculus)
Mammalia Pnpla6 34 16 35
  • 86.47 (n)
oppossum
(Monodelphis domestica)
Mammalia PNPLA6 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA6 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPLA6 34 35
  • 78.33 (n)
lizard
(Anolis carolinensis)
Reptilia PNPLA6 35
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pnpla6 35
  • 72 (a)
OneToOne
LOC560986 34
  • 69.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta sws 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK370.4 35
  • 33 (a)
ManyToMany
M110.7 35
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTE1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToMany
Species where no ortholog for PNPLA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PNPLA6 Gene

ENSEMBL:
Gene Tree for PNPLA6 (if available)
TreeFam:
Gene Tree for PNPLA6 (if available)

Paralogs for PNPLA6 Gene

Paralogs for PNPLA6 Gene

(1) SIMAP similar genes for PNPLA6 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for PNPLA6 Gene

genes like me logo Genes that share paralogs with PNPLA6: view

Variants for PNPLA6 Gene

Sequence variations from dbSNP and Humsavar for PNPLA6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_044409 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
VAR_044410 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
VAR_071091 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]
VAR_071092 Boucher-Neuhauser syndrome (BNHS) [MIM:215470]
VAR_071093 Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]

Structural Variations from Database of Genomic Variants (DGV) for PNPLA6 Gene

Variant ID Type Subtype PubMed ID
esv2751809 CNV gain 17911159
nsv1060887 CNV gain 25217958
nsv833730 CNV loss 17160897

Variation tolerance for PNPLA6 Gene

Residual Variation Intolerance Score: 1.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.84; 79.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PNPLA6 Gene

Human Gene Mutation Database (HGMD)
PNPLA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNPLA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNPLA6 Gene

Disorders for PNPLA6 Gene

MalaCards: The human disease database

(20) MalaCards diseases for PNPLA6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
laurence-moon syndrome
  • laurence-moon-biedl syndrome
spastic paraplegia 39, autosomal recessive
  • hereditary spastic paraplegia 39
boucher-neuhauser syndrome
  • ataxia-hypogonadism-choroidal dystrophy syndrome
oliver-mcfarlane syndrome
  • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
cerebellar ataxia and hypogonadotropic hypogonadism
  • cerebellar ataxia - hypogonadism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PLPL6_HUMAN
  • Boucher-Neuhauser syndrome (BNHS) [MIM:215470]: An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. {ECO:0000269 PubMed:24355708, ECO:0000269 PubMed:25033069}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Laurence-Moon syndrome (LNMS) [MIM:245800]: An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent. {ECO:0000269 PubMed:25480986}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Oliver-McFarlane syndrome (OMCS) [MIM:275400]: A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. {ECO:0000269 PubMed:25480986}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spastic paraplegia 39, autosomal recessive (SPG39) [MIM:612020]: 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. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. {ECO:0000269 PubMed:18313024, ECO:0000269 PubMed:24355708}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PNPLA6

Genetic Association Database (GAD)
PNPLA6
Human Genome Epidemiology (HuGE) Navigator
PNPLA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PNPLA6
genes like me logo Genes that share disorders with PNPLA6: view

No data available for Genatlas for PNPLA6 Gene

Publications for PNPLA6 Gene

  1. Neuropathy target esterase and a homologous Drosophila neurodegeneration-associated mutant protein contain a novel domain conserved from bacteria to man. (PMID: 9576844) Lush M.J. … Glynn P. (Biochem. J. 1998) 2 3 4 22 64
  2. Neuropathy target esterase gene mutations cause motor neuron disease. (PMID: 18313024) Rainier S. … Fink J.K. (Am. J. Hum. Genet. 2008) 3 4 22 64
  3. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. (PMID: 25480986) Hufnagel R.B. … Ahmed Z.M. (J. Med. Genet. 2015) 3 4 64
  4. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. (PMID: 24355708) Synofzik M. … ZA1chner S. (Brain 2014) 3 4 64
  5. Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. (PMID: 25033069) Topaloglu A.K. … Ojeda S.R. (J. Clin. Endocrinol. Metab. 2014) 3 4 64

Products for PNPLA6 Gene

Sources for PNPLA6 Gene

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