AAGAB Antibody, FITC conjugated

Code CSB-PA747468LC01HU
Size US$299
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Product Details

Full Product Name Rabbit anti-Homo sapiens (Human) AAGAB Polyclonal antibody
Uniprot No. Q6PD74
Target Names AAGAB
Alternative Names AAGAB antibody; AAGAB_HUMAN antibody; Alpha and gamma adaptin binding protein p34 antibody; Alpha- and gamma-adaptin-binding protein p34 antibody; LOC79719 antibody
Raised in Rabbit
Species Reactivity Human
Immunogen Recombinant Human Alpha- and gamma-adaptin-binding protein p34 protein (191-315AA)
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
Tested Applications ELISA
Protocols ELISA Protocol
Troubleshooting and FAQs Antibody 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 Data

Function May be involved in endocytic recycling of growth factor receptors such as EGFR.
Gene References into Functions
  1. Identical AAGAB genotypes presented a very broad interfamilial and intrafamilial variability of phenotypes in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer syndrome). PMID: 26608363
  2. we report two unrelated Japanese punctate palmoplantar keratoderma type 1 pedigrees harboring the novel AAGAB mutation c.191_194del-CAAA. PMID: 25771163
  3. Case Report: novel AAGAB mutation in punctate palmoplantar keratoderma type I. PMID: 24573067
  4. results reveal one novel and two recurrent mutations in AAGAB providing further evidence of its role in the pathogenesis of palmoplantar keratoderma. PMID: 24588319
  5. case Report: deletion mutation in AAGAB causing punctate palmoplantar keratoderma in Chinese family. PMID: 24162853
  6. This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development. PMID: 24289292
  7. families with type 1 punctate palmoplantar keratoderma have distinct mutations in AAGAB PMID: 24390136
  8. Results identify novel loss-of-function mutation within AAGAB associated with PPPK was identified from two Chinese pedigrees. PMID: 23448244
  9. analysis of the AAGAB genotype in 12 Punctate palmoplantar keratoderma (PPKP1) patients from 6 independent kindreds of Scottish, English, and Mexican ancestry PMID: 23743648
  10. We identified six mutations in the AAGAB gene in Chinese punctate palmoplantar keratoderma patients. PMID: 23633024
  11. We report the characteristics of a heterozygous AAGAB splice-site mutation in primary keratinocytes. PMID: 23563198
  12. Identification of two heterozygous nonsense mutations-c.370C>T (p.Arg124) and c.481C>T (p.Arg161)-in AAGAB in patients with punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. PMID: 23000146
  13. We hypothesize that AAGAB (p34) deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation PMID: 23064416

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Involvement in disease Keratoderma, palmoplantar, punctate 1A (PPKP1A)
Subcellular Location Cytoplasm, cytosol
Tissue Specificity Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus.
Database Links

HGNC: 25662

OMIM: 148600

KEGG: hsa:79719

STRING: 9606.ENSP00000261880

UniGene: Hs.254642


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