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Aliases for ISPD Gene

Aliases for ISPD Gene

  • Isoprenoid Synthase Domain Containing 2 3 5
  • 2-C-Methyl-D-Erythritol 4-Phosphate Cytidylyltransferase-Like Protein 3 4
  • Isoprenoid Synthase Domain-Containing Protein 3 4
  • Notch1-Induced Protein 2 3
  • HISPD 3 4
  • 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog (Arabidopsis) 2
  • 4-Diphosphocytidyl-2C-Methyl-D-Erythritol Synthase Homolog 3
  • D-Ribitol-5-Phosphate Cytidylyltransferase 3
  • Testicular Tissue Protein Li 97 3
  • HCG_1745121 3
  • EC 2.7.7.40 4
  • MDDGC7 3
  • MDDGA7 3
  • NIP 3

External Ids for ISPD Gene

Previous GeneCards Identifiers for ISPD Gene

  • GC07M016098

Summaries for ISPD Gene

Entrez Gene Summary for ISPD Gene

  • This gene encodes a 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein. Mutations in this gene are the cause of Walker-Warburg syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

GeneCards Summary for ISPD Gene

ISPD (Isoprenoid Synthase Domain Containing) is a Protein Coding gene. Diseases associated with ISPD include Muscular Dystrophy-Dystroglycanopathy , Type C, 7 and Muscular Dystrophy-Dystroglycanopathy , Type A, 7. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleotidyltransferase activity and 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity.

UniProtKB/Swiss-Prot for ISPD Gene

  • Cytidylyltransferase required for protein O-linked mannosylation (PubMed:26687144, PubMed:27130732, PubMed:27601598, PubMed:22522420, PubMed:22522421). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:26687144, PubMed:27130732). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:26687144, PubMed:27130732). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).

Additional gene information for ISPD Gene

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

Genomics for ISPD Gene

GeneHancer (GH) Regulatory Elements for ISPD Gene

Promoters and enhancers for ISPD 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
GH07I016419 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.1 +109.3 109277 4.3 HDGF FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ISPD LOC105375168 GC07M016295 GC07M016323
GH07I016345 Enhancer 0.8 Ensembl ENCODE 4.7 +183.5 183500 2.8 SMARCE1 MEIS2 PKNOX1 SOX6 TEAD4 CBFA2T3 KLF4 E4F1 ZBTB40 MEF2D ISPD GC07M016323 GC07M016295
GH07I016526 Promoter 0.6 EPDnew 0.8 +3.8 3752 0.1 ZBTB33 LRRC72 ISPD SOSTDC1 GC07M016477
GH07I016464 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 0.2 +65.0 64961 2.2 HDAC1 PKNOX1 SMAD1 ATF1 ZNF335 POLR2B ATF7 SMAD5 CEBPB NCOA1 SOSTDC1 LOC105375168 GC07M016477 ISPD
GH07I016490 Enhancer 0.9 ENCODE 0.3 +38.3 38272 2.7 ATF1 FOXA2 ARNT ATF7 PPARG ZNF592 NFIL3 ATF4 GMEB1 SMARCA4 SOSTDC1 GC07M016477 LRRC72 ISPD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISPD on UCSC Golden Path with GeneCards custom track

Genomic Locations for ISPD Gene

Genomic Locations for ISPD Gene
chr7:15,916,851-16,530,558
(GRCh38/hg38)
Size:
613,708 bases
Orientation:
Minus strand
chr7:16,127,152-16,460,947
(GRCh37/hg19)

Genomic View for ISPD Gene

Genes around ISPD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ISPD Gene

Proteins for ISPD Gene

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

    Protein Symbol:
    A4D126-ISPD_HUMAN
    Recommended name:
    D-ribitol-5-phosphate cytidylyltransferase
    Protein Accession:
    A4D126
    Secondary Accessions:
    • A8MU35
    • H9KVB2

    Protein attributes for ISPD Gene

    Size:
    451 amino acids
    Molecular mass:
    49873 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=EAL24288.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ISPD Gene

    Alternative splice isoforms for ISPD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISPD Gene

Post-translational modifications for ISPD Gene

No Post-translational modifications

No data available for DME Specific Peptides for ISPD Gene

Domains & Families for ISPD Gene

Gene Families for ISPD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ISPD Gene

Suggested Antigen Peptide Sequences for ISPD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A4D126

UniProtKB/Swiss-Prot:

ISPD_HUMAN :
  • Belongs to the IspD/TarI cytidylyltransferase family. IspD subfamily.
Family:
  • Belongs to the IspD/TarI cytidylyltransferase family. IspD subfamily.
genes like me logo Genes that share domains with ISPD: view

Function for ISPD Gene

Molecular function for ISPD Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CTP + D-ribitol 5-phosphate = diphosphate + CDP-ribitol.
UniProtKB/Swiss-Prot CatalyticActivity:
CTP + D-ribose 5-phosphate = diphosphate + CDP-ribose.
UniProtKB/Swiss-Prot CatalyticActivity:
CTP + D-ribulose 5-phosphate = diphosphate + CDP-ribulose.
UniProtKB/Swiss-Prot Function:
Cytidylyltransferase required for protein O-linked mannosylation (PubMed:26687144, PubMed:27130732, PubMed:27601598, PubMed:22522420, PubMed:22522421). Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate (PubMed:26687144, PubMed:27130732). CDP-ribitol is a substrate of FKTN during the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:26687144, PubMed:27130732). Shows activity toward other pentose phosphate sugars and mediates formation of CDP-ribulose or CDP-ribose using CTP and ribulose-5-phosphate or ribose-5-phosphate, respectively (PubMed:26687144). Not Involved in dolichol production (PubMed:26687144).

Enzyme Numbers (IUBMB) for ISPD Gene

Phenotypes From GWAS Catalog for ISPD Gene

Gene Ontology (GO) - Molecular Function for ISPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
GO:0042803 protein homodimerization activity IDA 26687144
GO:0047349 D-ribitol-5-phosphate cytidylyltransferase activity IEA,IDA 26687144
GO:0070567 cytidylyltransferase activity IDA 26687144
genes like me logo Genes that share ontologies with ISPD: view
genes like me logo Genes that share phenotypes with ISPD: view

Human Phenotype Ontology for ISPD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ISPD Gene

miRTarBase miRNAs that target ISPD

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ISPD Gene

Localization for ISPD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISPD Gene

Cytoplasm, cytosol.

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 ISPD gene
Compartment Confidence
cytosol 5
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ISPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,IDA 26687144
genes like me logo Genes that share ontologies with ISPD: view

Pathways & Interactions for ISPD Gene

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

Pathways by source for ISPD Gene

UniProtKB/Swiss-Prot A4D126-ISPD_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ISPD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0007411 axon guidance IEA --
GO:0008299 isoprenoid biosynthetic process IEA --
GO:0035269 protein O-linked mannosylation IMP 22522420
genes like me logo Genes that share ontologies with ISPD: view

No data available for SIGNOR curated interactions for ISPD Gene

Drugs & Compounds for ISPD Gene

No Compound Related Data Available

Transcripts for ISPD Gene

mRNA/cDNA for ISPD Gene

(12) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ISPD Gene

Isoprenoid synthase domain containing:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ISPD Gene

GeneLoc Exon Structure for
ISPD
ECgene alternative splicing isoforms for
ISPD

Expression for ISPD Gene

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

Protein differential expression in normal tissues from HIPED for ISPD Gene

This gene is overexpressed in Placenta (20.4), Fetal Brain (14.5), and Stomach (10.7).

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



NURSA nuclear receptor signaling pathways regulating expression of ISPD Gene:

ISPD

SOURCE GeneReport for Unigene cluster for ISPD Gene:

Hs.636502

mRNA Expression by UniProt/SwissProt for ISPD Gene:

A4D126-ISPD_HUMAN
Tissue specificity: Ubiquitously expressed, with high expression in brain.

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tongue
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ISPD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for ISPD Gene

Orthologs for ISPD Gene

This gene was present in the common ancestor of chordates.

Orthologs for ISPD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISPD 33 34
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia ISPD 33 34
  • 87.66 (n)
cow
(Bos Taurus)
Mammalia ISPD 33 34
  • 86.82 (n)
mouse
(Mus musculus)
Mammalia Ispd 33 16 34
  • 78.45 (n)
rat
(Rattus norvegicus)
Mammalia Ispd 33
  • 77.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ISPD 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISPD 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISPD 33 34
  • 68.92 (n)
lizard
(Anolis carolinensis)
Reptilia ISPD 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ispd 33
  • 65.12 (n)
zebrafish
(Danio rerio)
Actinopterygii ispd 33 34
  • 55.63 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for ISPD 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ISPD Gene

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

Paralogs for ISPD Gene

Pseudogenes.org Pseudogenes for ISPD Gene

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

No data available for Paralogs for ISPD Gene

Variants for ISPD Gene

Sequence variations from dbSNP and Humsavar for ISPD Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1023957741 uncertain-significance, Congenital Muscular Dystrophy, alpha-dystroglycan related 16,089,316(-) G/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1028370727 uncertain-significance, Congenital Muscular Dystrophy, alpha-dystroglycan related 16,088,434(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1041309471 uncertain-significance, Congenital Muscular Dystrophy, alpha-dystroglycan related 16,376,148(-) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1055453291 uncertain-significance, Congenital Muscular Dystrophy, alpha-dystroglycan related 16,090,928(-) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs111577730 uncertain-significance, Congenital Muscular Dystrophy, alpha-dystroglycan related 16,089,840(-) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1028556 CNV gain 25217958
nsv1022814 CNV loss 25217958
nsv1017498 CNV loss 25217958
esv9042 CNV loss 19470904
esv5024 CNV loss 18987735
esv3891071 CNV loss 25118596
esv3891069 CNV loss 25118596
esv3612397 CNV gain 21293372
esv3612396 CNV loss 21293372
esv3612393 CNV gain 21293372
esv3612392 CNV loss 21293372
esv3612391 CNV loss 21293372
esv3612390 CNV loss 21293372
esv3612387 CNV loss 21293372
esv3612386 CNV loss 21293372
esv3571669 CNV loss 25503493
esv3541250 CNV deletion 23714750
esv34298 CNV loss 17911159
esv3380217 CNV insertion 20981092
esv3379997 CNV insertion 20981092
esv3308996 CNV mobile element insertion 20981092
esv3281496 CNV deletion 24192839
esv2759514 CNV loss 17122850
esv2734055 CNV deletion 23290073
esv2734054 CNV deletion 23290073
esv2734053 CNV deletion 23290073
esv2734052 CNV deletion 23290073
esv2734050 CNV deletion 23290073
esv2734049 CNV deletion 23290073
esv2734048 CNV deletion 23290073
esv2662783 CNV deletion 23128226
esv2661402 CNV deletion 23128226
esv2659119 CNV deletion 23128226
esv2658278 CNV deletion 23128226
esv24769 CNV gain+loss 19812545
dgv6289n100 CNV gain 25217958
dgv3748e59 CNV duplication 20981092
dgv3502n106 CNV duplication 24896259
dgv3501n106 CNV deletion 24896259
dgv224e55 CNV loss 17911159
dgv1272e214 CNV loss 21293372
dgv1185e199 CNV deletion 23128226
dgv11222n54 CNV loss 21841781
dgv11221n54 CNV loss 21841781
dgv11220n54 CNV loss 21841781
dgv1092n67 CNV loss 20364138
nsv5645 CNV insertion 18451855
nsv523408 CNV loss 19592680
nsv523384 CNV loss 19592680
nsv517363 CNV loss 19592680
nsv514407 CNV loss 21397061
nsv511950 CNV loss 21212237
nsv511373 CNV loss 21212237
nsv508447 CNV deletion 20534489
nsv478166 CNV novel sequence insertion 20440878
nsv470133 CNV loss 18288195
nsv464396 CNV loss 19166990
nsv464393 CNV loss 19166990
nsv442031 CNV loss 18776908
nsv366243 CNV deletion 16902084
nsv1161503 CNV deletion 26073780
nsv1150076 CNV duplication 26484159
nsv1078580 CNV duplication 25765185
nsv1075014 CNV deletion 25765185
nsv1031019 CNV loss 25217958
nsv1030704 CNV loss 25217958
nsv956985 CNV deletion 24416366
nsv821416 CNV deletion 20802225
nsv820033 CNV loss 19587683
nsv818488 CNV loss 17921354
nsv8061 CNV loss 18304495
nsv606325 CNV loss 21841781
nsv606324 CNV loss 21841781
nsv606323 CNV loss 21841781
nsv606321 CNV loss 21841781
nsv606319 CNV gain 21841781
nsv606317 CNV gain+loss 21841781
nsv606313 CNV gain 21841781

Variation tolerance for ISPD Gene

Gene Damage Index Score: 6.74; 78.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISPD Gene

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

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

Disorders for ISPD Gene

MalaCards: The human disease database

(10) MalaCards diseases for ISPD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type c, 7
  • mddgc7
muscular dystrophy-dystroglycanopathy , type a, 7
  • mddga7
muscular dystrophy-dystroglycanopathy
  • cmd due to dystroglycanopathy
congenital muscular dystrophy without intellectual disability
  • cmd without intellectual disability
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ISPD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ISPD_HUMAN
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) [MIM:614643]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269 PubMed:22522420, ECO:0000269 PubMed:22522421, ECO:0000269 PubMed:23217329, ECO:0000269 PubMed:23288328, ECO:0000269 PubMed:24120487}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Muscular dystrophy-dystroglycanopathy limb-girdle C7 (MDDGC7) [MIM:616052]: A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, mental retardation, structural eye/brain abnormalities, or white matter changes. {ECO:0000269 PubMed:23288328, ECO:0000269 PubMed:23390185, ECO:0000269 PubMed:27234031}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ISPD

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 ISPD: view

No data available for Genatlas for ISPD Gene

Publications for ISPD Gene

  1. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation. (PMID: 26687144) Riemersma M … Lefeber DJ (Chemistry & biology 2015) 3 4 58
  2. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene. (PMID: 23390185) Tasca G … Ricci E (Neurology 2013) 3 4 58
  3. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. (PMID: 23288328) Cirak S … Muntoni F (Brain : a journal of neurology 2013) 3 4 58
  4. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. (PMID: 23217329) Vuillaumier-Barrot S … Seta N (American journal of human genetics 2012) 3 4 58
  5. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. (PMID: 22522420) Willer T … Campbell KP (Nature genetics 2012) 3 4 58

Products for ISPD Gene

Sources for ISPD Gene

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