Leber Congenital Amaurosis 5 蛋白 (LCA5)

LCA5 encodes a protein that is thought to be involved in centrosomal or ciliary functions. 再加上,我们可以发LCA5 抗体 (33)LCA5 试剂盒 (6)和数多这个蛋白质的别的产品。

列出全部蛋白 基因 基因ID UniProt
LCA5 167691 Q86VQ0
大鼠 LCA5 LCA5 300866 Q5U2Y9
LCA5 75782 Q80ST9
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Insect Cells His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
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Insect Cells 小鼠 His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
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大肠杆菌(E. Coli) His tag Validation with Western Blot 50 μg Log in to see Available
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LCA5 蛋白 by Origin and Source

Origin 在表达 标记
Human ,

Mouse (Murine)

更多Leber Congenital Amaurosis 5 (LCA5)互动伙伴

Human Leber Congenital Amaurosis 5 (LCA5) interaction partners

  1. The authors report novel biallelic LCA5 mutations, Ala212Pro and Tyr441Cys, as causing cone dystrophy.

  2. Identification of novel LCA5 mutations in patients with Leber congenital amaurosis and retinitis pigmentosa.

  3. This work reveals a higher frequency of LCA5 mutations in a Spanish Leber congenital amaurosis cohort than in other populations.

  4. A novel LCA5 mutation is present in a Pakistani family with Leber congenital amaurosis and cataracts.

  5. Macular coloboma-type LCA (显示 CLTA 蛋白) shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma.

  6. The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5.

  7. Data report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in this series (3/179; 1.7%).

  8. This is the second report of LCA5 mutations causing Leber congenital amaurosis.

  9. This result shows that mutation in LCA5 is likely to be a rare genetic cause in Koreans

  10. Leber congenital amaurosis 2 patients with LCA5 mutation had evidence of retained photoreceptors mainly in the central retina; retinal remodeling was present in pericentral regions

蛋白简介LCA5

蛋白简介

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described.

Gene names and symbols associated with LCA5

  • LCA5, lebercilin (LCA5)
  • Leber congenital amaurosis 5 (LOC787523)
  • LCA5, lebercilin (Lca5)
  • Leber congenital amaurosis 5 (human) (Lca5)
  • 4930431B11Rik 蛋白
  • 5730406O13Rik 蛋白
  • AV274874 蛋白
  • C6orf152 蛋白
  • ORF64 蛋白
  • RGD1308555 蛋白

Protein level used designations for LCA5

Leber congenital amaurosis 5 , lebercilin-like , Lebercilin , leber congenital amaurosis 5 protein , leber congenital amaurosis 5 protein homolog

GENE ID SPECIES
100065273 Equus caballus
100152810 Sus scrofa
421852 Gallus gallus
716999 Macaca mulatta
787523 Bos taurus
100353175 Oryctolagus cuniculus
100395197 Callithrix jacchus
167691 Homo sapiens
481893 Canis lupus familiaris
300866 Rattus norvegicus
75782 Mus musculus
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