KPTN Antibody

Code CSB-PA012492GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
KPTN
Alternative Names
2E4 antibody; actin associated protein 2E4 antibody; actin binding protein antibody; Actin-associated protein 2E4 antibody; Kaptin antibody; Kptn antibody; KPTN protein antibody; KPTN_HUMAN antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human KPTN
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB,IHC
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
As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose.
Gene References into Functions
  1. identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells PMID: 28199306
  2. We have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. PMID: 24239382
Involvement in disease
Mental retardation, autosomal recessive 41 (MRT41)
Subcellular Location
Lysosome membrane. Cell projection, lamellipodium. Cell projection, stereocilium.
Database Links

HGNC: 6404

OMIM: 615620

KEGG: hsa:11133

STRING: 9606.ENSP00000337850

UniGene: Hs.25441

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