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Aliases for PAFAH1B1 Gene

Aliases for PAFAH1B1 Gene

  • Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1 2 3 5
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Alpha Subunit (45kD) 2 3
  • Platelet-Activating Factor Acetylhydrolase 1b, Regulatory Subunit 1 (45kDa) 2 3
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Subunit 1 (45kDa) 2 3
  • MDCR 3 4
  • LIS1 3 4
  • MDS 3 4
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Alpha Subunit 45kDa 2
  • Platelet-Activating Factor Acetylhydrolase IB Subunit Alpha 3
  • Miller-Dieker Syndrome Chromosome Region 2
  • PAF Acetylhydrolase 45 KDa Subunit 4
  • Lissencephaly 1 Protein 3
  • Lissencephaly-1 Protein 4
  • PAF-AH 45 KDa Subunit 4
  • Lissencephaly-1 2
  • PAF-AH Alpha 4
  • PAFAH Alpha 4
  • PAFAHA 4
  • PAFAH 3
  • LIS-1 4
  • LIS2 3
  • NudF 3

External Ids for PAFAH1B1 Gene

Previous HGNC Symbols for PAFAH1B1 Gene

  • MDCR
  • MDS

Previous GeneCards Identifiers for PAFAH1B1 Gene

  • GC17P002810
  • GC17P002447
  • GC17P002703
  • GC17P002443
  • GC17P002496

Summaries for PAFAH1B1 Gene

Entrez Gene Summary for PAFAH1B1 Gene

  • This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]

GeneCards Summary for PAFAH1B1 Gene

PAFAH1B1 (Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with PAFAH1B1 include Lissencephaly 1 and Subcortical Band Heterotopia. Among its related pathways are Wnt Signaling Pathway (WikiPathways) and Signaling by GPCR. GO annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is WDR5.

UniProtKB/Swiss-Prot for PAFAH1B1 Gene

  • Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing.

Gene Wiki entry for PAFAH1B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAFAH1B1 Gene

Genomics for PAFAH1B1 Gene

Regulatory Elements for PAFAH1B1 Gene

Enhancers for PAFAH1B1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around PAFAH1B1 on UCSC Golden Path with GeneCards custom track

Promoters for PAFAH1B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PAFAH1B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAFAH1B1 Gene

Chromosome:
17
Start:
2,593,210 bp from pter
End:
2,685,617 bp from pter
Size:
92,408 bases
Orientation:
Plus strand

Genomic View for PAFAH1B1 Gene

Genes around PAFAH1B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAFAH1B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAFAH1B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAFAH1B1 Gene

Proteins for PAFAH1B1 Gene

  • Protein details for PAFAH1B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43034-LIS1_HUMAN
    Recommended name:
    Platelet-activating factor acetylhydrolase IB subunit alpha
    Protein Accession:
    P43034
    Secondary Accessions:
    • B2R7Q7
    • Q8WZ88
    • Q8WZ89

    Protein attributes for PAFAH1B1 Gene

    Size:
    410 amino acids
    Molecular mass:
    46638 Da
    Quaternary structure:
    • Component of cytosolic PAF-AH IB, which is composed of PAFAH1B1 (alpha), PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Trimer formation is not essential for the catalytic activity of the enzyme which is contributed solely by the PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Interacts with IQGAP1, KATNB1 and NUDC. Interacts with DAB1 when DAB1 is phosphorylated in response to RELN/reelin signaling (By similarity). Can self-associate. Interacts with DCX, dynein, dynactin, NDE1, NDEL1 and RSN. Interacts with DISC1, and this interaction is enhanced by NDEL1. Interacts with ASUN.
    SequenceCaution:
    • Sequence=AAA02882.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for PAFAH1B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAFAH1B1 Gene

Post-translational modifications for PAFAH1B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAFAH1B1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PAFAH1B1 (PAFAH1B1)
  • Abcam antibodies for LIS1

No data available for DME Specific Peptides for PAFAH1B1 Gene

Domains & Families for PAFAH1B1 Gene

Gene Families for PAFAH1B1 Gene

Graphical View of Domain Structure for InterPro Entry

P43034

UniProtKB/Swiss-Prot:

LIS1_HUMAN :
  • Dimerization mediated by the LisH domain may be required to activate dynein.
  • Belongs to the WD repeat LIS1/nudF family.
  • Contains 7 WD repeats.
Domain:
  • Dimerization mediated by the LisH domain may be required to activate dynein.
  • Contains 1 LisH domain.
Family:
  • Belongs to the WD repeat LIS1/nudF family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with PAFAH1B1: view

Function for PAFAH1B1 Gene

Molecular function for PAFAH1B1 Gene

GENATLAS Biochemistry:
platelet activating factor acetylhydrolase,microtubule associated protein,plasma isoform 1b,non catalytic alpha subunit ,component of overlapping but distinct signal pathways including DCX that promotes neuronal migration,expressed in fetal brain,regulated by phosphorylation,required for ordered neuronal migration in the cortex,deleted or mutated in isolated lissencephaly,also deleted in Miller-Dieker syndrome
UniProtKB/Swiss-Prot Function:
Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing.

Gene Ontology (GO) - Molecular Function for PAFAH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004623 phospholipase A2 activity TAS --
GO:0005515 protein binding IEA,IPI 11163258
GO:0008017 microtubule binding IEA,ISS 10729324
GO:0008201 heparin binding ISS 8028668
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with PAFAH1B1: view
genes like me logo Genes that share phenotypes with PAFAH1B1: view

Human Phenotype Ontology for PAFAH1B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PAFAH1B1 Gene

MGI Knock Outs for PAFAH1B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PAFAH1B1 Gene

Localization for PAFAH1B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAFAH1B1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Nucleus membrane. Note=Redistributes to axons during neuronal development. Also localizes to the microtubules of the manchette in elongating spermatids and to the meiotic spindle in spermatocytes (By similarity). Localizes to the plus end of microtubules and to the centrosome. May localize to the nuclear membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAFAH1B1 Gene COMPARTMENTS Subcellular localization image for PAFAH1B1 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 4
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PAFAH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000235 astral microtubule IDA 11940666
GO:0000776 kinetochore IDA 11056532
GO:0005635 nuclear envelope IEA,IDA 11940666
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,ISS --
genes like me logo Genes that share ontologies with PAFAH1B1: view

Pathways & Interactions for PAFAH1B1 Gene

genes like me logo Genes that share pathways with PAFAH1B1: view

Gene Ontology (GO) - Biological Process for PAFAH1B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000132 establishment of mitotic spindle orientation IMP 11056532
GO:0000226 microtubule cytoskeleton organization IEA,ISS 10729324
GO:0001667 ameboidal-type cell migration IEA --
GO:0001675 acrosome assembly IEA,ISS --
genes like me logo Genes that share ontologies with PAFAH1B1: view

No data available for SIGNOR curated interactions for PAFAH1B1 Gene

Drugs & Compounds for PAFAH1B1 Gene

(11) Drugs for PAFAH1B1 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 101
calcium Nutra 0
Gossypol Pharma PAF inhibitor;anti-fertility and anti-cancer, Proapoptotic; downregulates Bcl-2 and Bcl-XL 24

(10) Additional Compounds for PAFAH1B1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoPC(O-18:0)
  • 1-Octadecyl-sn-glycero-3-phosphocholine
  • LysoPC(18:0e/0:0)
  • LysoPC(dm18:0)
  • LysoPC(O-18:0)
  • LysoPC(O-18:0/0:0)
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)

(1) ApexBio Compounds for PAFAH1B1 Gene

Compound Action Cas Number
Gossypol PAF inhibitor;anti-fertility and anti-cancer 303-45-7
genes like me logo Genes that share compounds with PAFAH1B1: view

Transcripts for PAFAH1B1 Gene

Unigene Clusters for PAFAH1B1 Gene

Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH1B1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14 ^ 15
SP1: - - - -
SP2: - - - - - - - - - - - -
SP3: -
SP4: - - - -
SP5: - -
SP6: - - -
SP7:
SP8: -

Relevant External Links for PAFAH1B1 Gene

GeneLoc Exon Structure for
PAFAH1B1
ECgene alternative splicing isoforms for
PAFAH1B1

Expression for PAFAH1B1 Gene

mRNA expression in normal human tissues for PAFAH1B1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PAFAH1B1 Gene



Protein tissue co-expression partners for PAFAH1B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PAFAH1B1 Gene:

PAFAH1B1

SOURCE GeneReport for Unigene cluster for PAFAH1B1 Gene:

Hs.77318

mRNA Expression by UniProt/SwissProt for PAFAH1B1 Gene:

P43034-LIS1_HUMAN
Tissue specificity: Fairly ubiquitous expression in both the frontal and occipital areas of the brain.
genes like me logo Genes that share expression patterns with PAFAH1B1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for PAFAH1B1 Gene

Orthologs for PAFAH1B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PAFAH1B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAFAH1B1 34
  • 96.59 (n)
  • 99.27 (a)
PAFAH1B1 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAFAH1B1 34
  • 97.07 (n)
  • 99.76 (a)
PAFAH1B1 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pafah1b1 34
  • 95.12 (n)
  • 99.76 (a)
Pafah1b1 16
Pafah1b1 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAFAH1B1 34
  • 99.59 (n)
  • 99.51 (a)
PAFAH1B1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pafah1b1 34
  • 95.28 (n)
  • 99.76 (a)
oppossum
(Monodelphis domestica)
Mammalia PAFAH1B1 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAFAH1B1 35
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAFAH1B1 34
  • 89.35 (n)
  • 99.02 (a)
PAFAH1B1 35
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAFAH1B1 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pafah1b1 34
  • 85.04 (n)
  • 97.32 (a)
Str.10386 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5347 34
zebrafish
(Danio rerio)
Actinopterygii pafah1b1a 34
  • 82.03 (n)
  • 94.39 (a)
pafah1b1a 35
  • 94 (a)
OneToMany
pafah1b1b 35
  • 94 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Lis1 36
  • 70 (a)
Lis-1 35
  • 69 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea lis-1 36
  • 57 (a)
lis-1 34
  • 59.47 (n)
  • 58.56 (a)
lis-1 35
  • 58 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSA4 35
  • 19 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.1434 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13232 34
bread mold
(Neurospora crassa)
Ascomycetes NCU04534 34
  • 52.2 (n)
  • 50.9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3512 35
  • 70 (a)
OneToOne
Species where no ortholog for PAFAH1B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PAFAH1B1 Gene

ENSEMBL:
Gene Tree for PAFAH1B1 (if available)
TreeFam:
Gene Tree for PAFAH1B1 (if available)

Paralogs for PAFAH1B1 Gene

Paralogs for PAFAH1B1 Gene

(12) SIMAP similar genes for PAFAH1B1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PAFAH1B1 Gene

genes like me logo Genes that share paralogs with PAFAH1B1: view

Variants for PAFAH1B1 Gene

Sequence variations from dbSNP and Humsavar for PAFAH1B1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121434482 Lissencephaly 1 (LIS1) 2,670,209(+) AGGAC(A/G)TACAG reference, missense
rs121434484 Subcortical band heterotopia (SBH) 2,670,268(+) CCTGT(C/T)CTGCA reference, missense
rs121434486 Lissencephaly 1 (LIS1) 2,665,431(+) AGTTT(C/T)TAAAA reference, missense
VAR_015399 Lissencephaly 1 (LIS1)
VAR_015400 Lissencephaly 1 (LIS1)

Structural Variations from Database of Genomic Variants (DGV) for PAFAH1B1 Gene

Variant ID Type Subtype PubMed ID
esv2660206 CNV deletion 23128226
esv2664869 CNV deletion 23128226
esv2715502 CNV deletion 23290073
esv2715503 CNV deletion 23290073
esv275250 CNV gain+loss 21479260
esv3572343 CNV gain 25503493
esv3582486 CNV loss 25503493
esv3639714 CNV loss 21293372
esv3639715 CNV loss 21293372
nsv1055844 CNV gain 25217958
nsv1065489 CNV gain 25217958
nsv1070794 CNV deletion 25765185
nsv1123087 CNV deletion 24896259
nsv516756 CNV gain 19592680
nsv833339 CNV loss 17160897
nsv954919 CNV deletion 24416366

Variation tolerance for PAFAH1B1 Gene

Residual Variation Intolerance Score: 22.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAFAH1B1 Gene

Human Gene Mutation Database (HGMD)
PAFAH1B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAFAH1B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAFAH1B1 Gene

Disorders for PAFAH1B1 Gene

MalaCards: The human disease database

(28) MalaCards diseases for PAFAH1B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lissencephaly 1
  • subcortical laminar heterotopia
subcortical band heterotopia
  • double cortex syndrome
miller-dieker lissencephaly syndrome
  • mds
dcx-related disorders
  • subcortical band heterotopia
isolated 17-linked lissencephaly
  • lis1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LIS1_HUMAN
  • Lissencephaly 1 (LIS1) [MIM:607432]: A classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum. {ECO:0000269 PubMed:11502906, ECO:0000269 PubMed:15007136, ECO:0000269 PubMed:9063735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Miller-Dieker lissencephaly syndrome (MDLS) [MIM:247200]: A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Subcortical band heterotopia (SBH) [MIM:607432]: SBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. {ECO:0000269 PubMed:10441340, ECO:0000269 PubMed:14581661}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PAFAH1B1

Genetic Association Database (GAD)
PAFAH1B1
Human Genome Epidemiology (HuGE) Navigator
PAFAH1B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAFAH1B1
genes like me logo Genes that share disorders with PAFAH1B1: view

No data available for Genatlas for PAFAH1B1 Gene

Publications for PAFAH1B1 Gene

  1. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. (PMID: 9063735) Lo Nigro C. … Ledbetter D.H. (Hum. Mol. Genet. 1997) 2 3 4 22 65
  2. [Correlation between desmin gene, platelet-activating factor acetylhydrolase gene and dilated cardiomyopathy]. (PMID: 16761416) Wang B. … Chen X.Y. (Sichuan Da Xue Xue Bao Yi Xue Ban 2006) 3 22 46 65
  3. Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. (PMID: 15173193) Tanaka T. … Gleeson J.G. (J. Cell Biol. 2004) 3 4 22 65
  4. Platelet-activating factor acetylhydrolase gene polymorphism and its activity in Japanese patients with multiple sclerosis. (PMID: 15081260) Osoegawa M. … Kira J. (J. Neuroimmunol. 2004) 3 22 46 65
  5. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. (PMID: 14581661) Sicca F. … Guerrini R. (Neurology 2003) 3 4 22 65

Products for PAFAH1B1 Gene

Sources for PAFAH1B1 Gene

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