RAB40AL Antibody, FITC conjugated

Code CSB-PA019203LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) RAB40AL Polyclonal antibody
Uniprot No.
Target Names
RAB40AL
Alternative Names
RAB40AL antibody; RLGP antibody; Ras-related protein Rab-40A-like antibody; Ras-like GTPase antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Ras-related protein Rab-40A-like protein (1-88AA)
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
May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Gene References into Functions
  1. Our findings are inconsistent with a causative effect of RAB40AL p.D59G on cognitive impairment combined with severe to profound bilateral hearing loss but indicate that p.D59G is a common genetic variation. PMID: 25370018
  2. Data question the role of RAB40AL mutation as a disease-causing change and the involvement of RAB40AL in Martin-Probst syndrome. PMID: 25044830
  3. We herein present an unrelated 20-year-old male with similar manifestations also with p.D59G in the RAB40AL gene, which supports the existence of this condition previously coined as Martin-Probst syndrome PMID: 24863632
  4. This is the first study to show that mutation of RAB40AL is associated with a human disorder. PMID: 22581972
Involvement in disease
Mental retardation, X-linked, syndromic, Martin-Probst type (MRXSMP)
Subcellular Location
Membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm. Mitochondrion.
Protein Families
Small GTPase superfamily, Rab family
Tissue Specificity
Expressed in brain, lung, heart, skeletal muscle, kidney and liver. Highest expression in brain. Expressed in fetal brain and kidney.
Database Links

HGNC: 25410

OMIM: 300405

KEGG: hsa:282808

STRING: 9606.ENSP00000218249

UniGene: Hs.449517

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