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Leber Congenital Amaurosis 5 Proteins (LCA5)

LCA5 encodes a protein that is thought to be involved in centrosomal or ciliary functions. Additionally we are shipping LCA5 Antibodies (21) and LCA5 Kits (3) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
LCA5 167691 Q86VQ0
Rat LCA5 LCA5 300866 Q5U2Y9
LCA5 75782 Q80ST9
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Top LCA5 Proteins at antibodies-online.com

Showing 3 out of 4 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 39 to 44 Days
$9,248.02
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 39 to 44 Days
$9,248.02
Details
HOST_Escherichia coli (E. coli) Human Un-conjugated   50 μg Log in to see 9 to 11 Days
$229.85
Details

LCA5 Proteins by Origin and Source

Origin Expressed in Conjugate
Human

Mouse (Murine)

More Proteins for Leber Congenital Amaurosis 5 (LCA5) Interaction Partners

Human Leber Congenital Amaurosis 5 (LCA5) interaction partners

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

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

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

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

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

  6. 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%).

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

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

  9. 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

  10. OFD1 (show OFD1 Proteins) is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

LCA5 Protein Profile

Protein Summary

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

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

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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