Property Summary

NCBI Gene PubMed Count 19
Grant Count 47
R01 Count 16
Funding $6,033,967.82
PubMed Score 132.38
PubTator Score 60.43

Knowledge Summary

Patent

No data available

Expression

Gene RIF (12)

PMID Text
26404900 data suggest that the genetic heterogeneity of Limb Girdle Muscular Dystrophy with and without alpha-DG defects is greater than previously realized.
26220087 Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC.
26087224 ISPD gene homozygous deletion as a prenatal manifestation of Walker-Warburg syndrome has been found in 3 female fetuses of one family.
25444434 study describes a new homozygous missense mutation c.367G>A (p.Gly123Arg) in the ISPD gene in a family of Pakistani origin with 2 cousins from consanguineous parents affected with a congenital muscular dystrophy (CMD) /early limb-girdle muscular dystrophy intermediate phenotype and CMD respectively
23390185 we identified a novel homozygous c.161G>C/p.G54A variant in ISPD in patients with limb-girdle muscular dystrophy
23288328 study report the involvement of the ISPD gene in milder dystroglycanopathy phenotypes ranging from congenital muscular dystrophy to limb-girdle muscular dystrophy and identified allelic ISPD variants in nine cases belonging to seven families
23217329 TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.
22522421 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.
22522420 ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
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AA Sequence

MEAGPPGSARPAEPGPCLSGQRGADHTASASLQSVAGTEPGRHPQAVAAVLPAGGCGERMGVPTPKQFCP      1 - 70
ILERPLISYTLQALERVCWIKDIVVAVTGENMEVMKSIIQKYQHKRISLVEAGVTRHRSIFNGLKALAED     71 - 140
QINSKLSKPEVVIIHDAVRPFVEEGVLLKVVTAAKEHGAAGAIRPLVSTVVSPSADGCLDYSLERARHRA    141 - 210
SEMPQAFLFDVIYEAYQQCSDYDLEFGTECLQLALKYCCTKAKLVEGSPDLWKVTYKRDLYAAESIIKER    211 - 280
ISQEICVVMDTEEDNKHVGHLLEEVLKSELNHVKVTSEALGHAGRHLQQIILDQCYNFVCVNVTTSDFQE    281 - 350
TQKLLSMLEESSLCILYPVVVVSVHFLDFKLVPPSQKMENLMQIREFAKEVKERNILLYGLLISYPQDDQ    351 - 420
KLQESLRQGAIIIASLIKERNSGLIGQLLIA                                           421 - 451
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Text Mined References (20)

PMID Year Title
27234031 2016 Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.
26404900 2015 ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
26220087 2015 Downregulation of dystroglycan glycosyltransferases LARGE2 and ISPD associate with increased mortality in clear cell renal cell carcinoma.
26087224 2015 ISPD gene homozygous deletion identified by SNP array confirms prenatal manifestation of Walker-Warburg syndrome.
25444434 2015 A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.
23390185 2013 Limb-girdle muscular dystrophy with ?-dystroglycan deficiency and mutations in the ISPD gene.
23288328 2013 ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
23217329 2012 Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
23151678 2013 Impact of four loci on serum tamsulosin hydrochloride concentration.
22522421 2012 Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.
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