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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
  • NTE 3 4
  • Patatin-Like Phospholipase Domain Containing 6 2
  • IPLA2delta 3
  • EC 3.1.1.5 4
  • 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 Boucher-Neuhauser Syndrome. Among its related pathways are Metabolism and PI Metabolism. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PNPLA6 Gene

Promoters and enhancers for PNPLA6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J007532 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.8 755 3.8 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 GC19M007532 PNPLA6 ENSG00000268614 ZNF557 XAB2 HNRNPM ELAVL1 ZNF414 MAP2K7 MCOLN1
GH19J007678 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 6.1 +146.7 146691 3.6 PKNOX1 ARNT ARID4B SIN3A YY1 ZNF207 ZNF143 SP3 SP5 REST MCEMP1 TRAPPC5 HNRNPM ELAVL1 XAB2 ZNF557 MAP2K7 RPL21P129 LYPLA2P2 MBD3L5
GH19J007700 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.7 +170.5 170484 7 HDGF PKNOX1 SMAD1 YBX1 IRF4 ZNF207 ZNF143 ATF7 RUNX3 RXRA FCER2 HNRNPM ELAVL1 XAB2 MAP2K7 STXBP2 PEX11G CD209 CLEC4G RPL21P129
GH19J007543 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 9.9 +10.7 10722 3.2 BCL11A POLR2A BCL11B NR2F2 SPI1 EGR2 MCOLN1 MCEMP1 PEX11G PNPLA6 STXBP2 RETN GC19M007532 CAMSAP3
GH19J007551 Promoter/Enhancer 1.3 Ensembl ENCODE 6.7 +17.6 17556 1 HDGF ATF1 ARNT SIN3A DEAF1 ZBTB40 YY1 ETS1 ZNF766 ZNF143 CAMSAP3 PNPLA6 GC19M007532
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNPLA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PNPLA6 gene promoter:
  • AP-1
  • c-Ets-1
  • SRF
  • SRF (504 AA)
  • AhR
  • Arnt
  • Pax-3
  • Nkx3-1

Genomic Locations for PNPLA6 Gene

Genomic Locations for PNPLA6 Gene
chr19:7,534,004-7,561,767
(GRCh38/hg38)
Size:
27,764 bases
Orientation:
Plus strand
chr19:7,598,890-7,626,653
(GRCh37/hg19)
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

Post-translational modifications for PNPLA6 Gene

Antibody Products

  • Abcam antibodies for PNPLA6
  • Santa Cruz Biotechnology (SCBT) Antibodies for PNPLA6

No data available for DME Specific Peptides for PNPLA6 Gene

Domains & Families for PNPLA6 Gene

Gene Families for PNPLA6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

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 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.
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.

Enzyme Numbers (IUBMB) for PNPLA6 Gene

Phenotypes From GWAS Catalog for PNPLA6 Gene

Gene Ontology (GO) - Molecular Function for PNPLA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity IBA --
GO:0016787 hydrolase activity IEA,IBA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA6

Clone 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 IBA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PNPLA6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PNPLA6 Gene

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:0016042 lipid catabolic process IEA --
GO:0032502 developmental process IBA --
GO:0046470 phosphatidylcholine metabolic process IEA --
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
Palmitic Acid Approved, Experimental Pharma Full agonist, Agonist 23
Stearic acid Approved, Experimental Pharma 0
Water Approved Pharma 0
Choline alfoscerate Experimental, Investigational Pharma 0
Myristic acid Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
  • Eicosanoic acid
506-30-9
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
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
  • 15:00
  • C15
  • C15:0
  • N-Pentadecanoic acid
  • Pentadecylic acid
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNPLA6

Clone 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, 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(2.1)

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
Regions:
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

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 33
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PNPLA6 34 33
  • 89.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PNPLA6 34 33
  • 88.96 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnpla6 33
  • 86.93 (n)
mouse
(Mus musculus)
Mammalia Pnpla6 16 34 33
  • 86.47 (n)
oppossum
(Monodelphis domestica)
Mammalia PNPLA6 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PNPLA6 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PNPLA6 34 33
  • 78.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PNPLA6 34
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pnpla6 34
  • 72 (a)
OneToOne
LOC560986 33
  • 69.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta sws 34
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ZK370.4 34
  • 33 (a)
ManyToMany
M110.7 34
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NTE1 34
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PNPLA6: view image

Paralogs for PNPLA6 Gene

Paralogs for PNPLA6 Gene

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

  • PLPL6_HUMAN
  • M0QXH7_HUMAN
  • M0QYF5_HUMAN
  • M0QYT1_HUMAN
  • M0QZD1_HUMAN
  • M0QZK5_HUMAN
  • M0R2C2_HUMAN
  • M0R2H4_HUMAN
  • M0R2K2_HUMAN

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 Variation AA Info Type
rs1057518936 likely-pathogenic, Cerebellar ataxia, Dysarthria, Hypogonadotrophic hypogonadism 7,541,025(+) C/G coding_sequence_variant, missense_variant
rs1060502664 pathogenic, Spastic paraplegia 39 7,561,219(+) G/ coding_sequence_variant, frameshift
rs112133109 benign, uncertain-significance, Spastic paraplegia 39, Spastic Paraplegia, Recessive, not specified 7,559,055(+) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs112732576 benign, likely-benign, Spastic paraplegia 39, Mucolipidosis type IV, Spastic Paraplegia, Recessive 7,535,969(+) G/C coding_sequence_variant, missense_variant
rs113264142 conflicting-interpretations-of-pathogenicity, benign, not specified, Spastic paraplegia 39 7,554,964(+) C/T coding_sequence_variant, synonymous_variant

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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PLPL6_HUMAN
  • 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.
  • 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.

Additional Disease Information for PNPLA6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MJ … Glynn P (The Biochemical journal 1998) 2 3 4 22 58
  2. Neuropathy target esterase gene mutations cause motor neuron disease. (PMID: 18313024) Rainier S … Fink JK (American journal of human genetics 2008) 3 4 22 58
  3. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. (PMID: 25480986) Hufnagel RB … Ahmed ZM (Journal of medical genetics 2015) 3 4 58
  4. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. (PMID: 24355708) Synofzik M … Züchner S (Brain : a journal of neurology 2014) 3 4 58
  5. Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. (PMID: 25033069) Topaloglu AK … Ojeda SR (The Journal of clinical endocrinology and metabolism 2014) 3 4 58

Products for PNPLA6 Gene

Sources for PNPLA6 Gene

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