SNX14 Antibody, FITC conjugated

Code CSB-PA806844LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) SNX14 Polyclonal antibody
Uniprot No.
Target Names
SNX14
Alternative Names
MGC13217 antibody; RGS-PX2 antibody; RP11-321N4.2 antibody; Snx14 antibody; SNX14_HUMAN antibody; Sorting nexin 14 antibody; Sorting nexin-14 antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human Sorting nexin-14 protein (601-893AA)
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
Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking. Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes. Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes. Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)).
Gene References into Functions
  1. Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families PMID: 27913285
  2. A unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction. PMID: 25848753
  3. SNX19 and SNX14 PX domains reveal key differences in spatial control of RGS-PX proteins in cell signaling and trafficking. PMID: 25148684
  4. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. PMID: 25439728
Involvement in disease
Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20)
Subcellular Location
Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Cell projection, dendrite.
Protein Families
Sorting nexin family
Tissue Specificity
Widely expressed both in fetal and adult tissues.
Database Links

HGNC: 14977

OMIM: 616105

KEGG: hsa:57231

STRING: 9606.ENSP00000313121

UniGene: Hs.485871

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