KIAA0319 Antibody, Biotin conjugated

說(shuō)明書(shū)

中文名稱(chēng)：

KIAA0319兔多克隆抗體, Biotin偶聯(lián)
貨號(hào)：

CSB-PA22689D0Rb
規(guī)格：

￥880
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

產(chǎn)品名稱(chēng)：

Rabbit anti-Homo sapiens (Human) KIAA0319 Polyclonal antibody
Uniprot No.：

Q5VV43
基因名：

KIAA0319
別名：

DLX 2 antibody; DLX2 antibody; DYLX 2 antibody; DYLX2 antibody; Dyslexia susceptibility 2 antibody; Dyslexia-associated protein KIAA0319 antibody; DYX 2 antibody; DYX2 antibody; K0319_HUMAN antibody; Kiaa0319 antibody; MGC176717 antibody
宿主：

Rabbit
反應(yīng)種屬：

Human
免疫原：

Recombinant Human Dyslexia-associated protein KIAA0319 protein (153-268AA)
免疫原種屬：

Homo sapiens (Human)
標(biāo)記方式：

Biotin
克隆類(lèi)型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA
Protocols：

ELISA Protocol
儲(chǔ)存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.
基因功能參考文獻(xiàn)：
1. By suggesting the presence of common biological processes underlying reading (dis)ability, these findings represent initial support for a generalist effect of the non-additive interdependence between READ1 and the KIAA0319 risk haplotype and can help in clinically assessing the individual risk for Developmental dyslexia. PMID: 29066855
2. These findings suggest that DNA methylation patterns in the KIAA0319 promoter region might be associated with cognitive control processes that are necessary to perform well in the forced-attention conditions. PMID: 28958754
3. The study corroborates the importance of rs2038137-KIAA0319, and rs6935076-KIAA0319 in the aetiology of dyslexia. The relevance of rs2038137-KIAA0319, and rs6935076-KIAA0319 was further supported by the meta-analysis. PMID: 27312598
4. a meta-analysis of association studies involving KIAA0319 polymorphisms and Developmental Dyslexia risk, is reported. PMID: 27464509
5. Missense variant in DYX2 gene is associated with reading disability. PMID: 28866788
6. Two SNPs in the KIAA0319 gene were nominally associated with rapid naming, and these associations were stable across different ages in longitudinal data set from the Dutch Dyslexia Program. PMID: 28074887
7. Study establishes KIAA0319 as a novel player in axon growth and regeneration with the ability to repress the intrinsic growth potential of axons; describes a novel regulatory mechanism operating during peripheral nervous system and central nervous system axon growth, and offers novel targets for the development of effective therapies to promote axon regeneration PMID: 28334068
8. This study indicated that genetic polymorphisms of KIAA0319 are associated with an increased risk of DD in the Uyghur population. PMID: 27098879
9. The KIAA0319 gene is associated with both reading ability and general cognition, but in different ways. The effect on IQ appears to occur earlier in development and is transient, whereas the effect of reading ability occurs later and is moderated by antenatal maternal stress. PMID: 27465261
10. Markers in DYX2 genes KIAA0319 and FAM65B were associated with cortical thickness in the left developing orbitofrontal region and global fractional anisotropy, respectively. KIAA0319 and ACOT13 were suggestively associated with overall fractional anisotropy and left pars opercularis cortical thickness, respectively. PMID: 25953057
11. These results indicate that KIAA0319L is the fourth of four candidate dyslexia susceptibility genes that is involved in neuronal migration, which supports the association of abnormal neuronal migration with developmental dyslexia. PMID: 23831424
12. the association of DCDC2 and KIAA0319 with Developmental dyslexia in Chinese population should be further validated PMID: 25230923
13. our findings suggest that KIAA0319 is associated with a reading-related cognitive skill PMID: 25015435
14. KIAA0319 and ROBO1 genes, and developmental dyslexia (DD), related neuropsychological phenotypes and comorbid language and mathematical (dis)abilities in a large cohort of 493 Italian nuclear families ascertained through a proband with a diagnosis of DD. PMID: 24430574
15. This study demonstrated the association of developmental dyslexia with rs4504469 of KIAA0319 and not with any single-nucleotide polymorphisms of DCDC2. PMID: 23677054
16. results suggested that the 931C > T variant in KIAA0319, but not the -3G > A in DYX1C1, was significantly associated with the risk of dyslexia PMID: 23065966
17. The results of this study found that KIAA0319 gene contained polymorphisms that were significantly associated with white matter volume in the left temporo-parietal region and that white matter volume influenced reading ability. PMID: 22683091
18. Association study of a functional genetic variant in KIAA0319 in German dyslexics. PMID: 21934641
19. Mutations in cilia co-expressed DCDC2, DYX1C1 and KIAA0319 genes are associated with a cognitive neurological disorder, dyslexia. PMID: 22558177
20. The Kiaa0319 plays a role in neuronal migration during embryonic development, and that early interference with this gene results in an array of behavioral deficits including impairments in rapid auditory processing and simple spatial learning. PMID: 22326444
21. The results of this study confirmed that both FOXP2 and KIAA0319/TTRAP/THEM2 genes play an important role in human language development, but probably through different cerebral pathways. PMID: 22262880
22. We provide further support for the role of KIAA0319 and DCDC2 in contributing to reading abilities PMID: 21457949
23. We identified four rare variants that were significantly associated with the late MMN component. PMID: 21104116
24. At this point, there is no statistical evidence of association between the allelic variation in the three candidate genes and DD in our sample. PMID: 21203818
25. These results support previous studies indicating the 5' region of the KIAA0319 gene as the location of risk alleles contributing to RD. PMID: 21207242
26. KIAA0319 not only has a direct role in neuronal migration but may also have additional signaling functions. PMID: 20943657
27. acetylated H3 histones in KIAA0319 have a role in reading disabilities PMID: 19588467
28. The results provide additional supportive evidence linking candidate dyslexia susceptibility genes to migrational disturbances during brain development, and extends the role of Kiaa0319 to include growth and differentiation of dendrites. PMID: 19679544
29. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. PMID: 15717286
30. The risk haplotype on chromosome 6p22.2 down-regulates the KIAA0319 gene which is required for neuronal migration during the formation of the cerebral neocortex. PMID: 16600991
31. a multilocus effect in or near KIAA0319 may influence variation in reading ability. PMID: 17597587
32. widely expressed in adult brain; alternative splicing variants are detected PMID: 17846832
33. results suggest that KIAA0319 could be involved not only in cell-cell interactions, but also in signalling PMID: 18063668
34. we found a nominally significant association for the quantitative dimension "word reading" and KIAA0319 genotype PMID: 18810304
35. KIAA0319 protein is associated with dyslexia. PMID: 18829873
36. identified seven single-nucleotide polymorphisms on the risk haplotype immediately upstream of KIAA0319 and determined that three of these are strongly associated with multiple reading-related traits PMID: 19325871
37. The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway. PMID: 19419997
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相關(guān)疾病：

Dyslexia 2 (DYX2)
亞細(xì)胞定位：

Cell membrane; Single-pass type I membrane protein. Early endosome membrane; Single-pass type I membrane protein.
組織特異性：

Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 21580

OMIM: 600202

KEGG: hsa:9856

STRING: 9606.ENSP00000367459

UniGene: Hs.26441

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