MAB21L2 Antibody, FITC conjugated

Code CSB-PA896901LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) MAB21L2 Polyclonal antibody
Uniprot No.
Target Names
MAB21L2
Alternative Names
MAB21L2 antibody; Protein mab-21-like 2 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Protein mab-21-like 2 protein (1-300AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
FITC
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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.

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Target Background

Function
Required for several aspects of embryonic development including normal development of the eye.
Gene References into Functions
  1. mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. [review] PMID: 27558071
  2. The two unrelated individuals with a novel oculo-skeletal syndrome with intellectual disability described are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2. PMID: 26116559
  3. These findings support the identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans. PMID: 25719200
  4. This report provides compelling human genomic and genetic evidence that mutations in MAB21L2 cause major eye malformations. PMID: 24906020
Involvement in disease
Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS)
Subcellular Location
Nucleus. Cytoplasm.
Protein Families
Mab-21 family
Database Links

HGNC: 6758

OMIM: 604357

KEGG: hsa:10586

STRING: 9606.ENSP00000324701

UniGene: Hs.584852

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