Protein FAM134B (FAM134B) Recombinant Protein | FAM134B recombinant protein
Recombinant Human Protein FAM134B (FAM134B)
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Uniprot Description
FAM134B: Required for long-term survival of nociceptive and autonomic ganglion neurons. Defects in FAM134B are the cause of hereditary sensory and autonomic neuropathy type 2B (HSAN2B). A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response. Belongs to the FAM134 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 5p15.1
Cellular Component: cis-Golgi network; Golgi apparatus; integral to endoplasmic reticulum membrane
Molecular Function: protein binding
Biological Process: negative regulation of neuron apoptosis; sensory perception of pain
Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Iia; Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Research Articles on FAM134B
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Product Notes
The FAM134B fam134b (Catalog #AAA7014513) is a Recombinant Protein produced from Cell Free Expression and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 1-497aa; full length protein. This is a recombinant transmembrane protein expressed in a cell-free expression system. Researchers should empirically determine the suitability of the FAM134B fam134b for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. The amino acid sequence is listed below: MASPAPPEHA EEGCPAPAAE EQAPPSPPPP QASPAERQQQ EEEAQEAGAA EGAGLQVEEA AGRAAAAVTW LLGEPVLWLG CRADELLSWK RPLRSLLGFV AANLLFWFLA LTPWRVYHLI SVMILGRVIM QIIKDMVLSR TRGAQLWRSL SESWEVINSK PDERPRLSHC IAESWMNFSI FLQEMSLFKQ QSPGKFCLLV CSVCTFFTIL GSYIPGVILS YLLLLCAFLC PLFKCNDIGQ KIYSKIKSVL LKLDFGIGEY INQKKRERSE ADKEKSHKDD SELDFSALCP KISLTVAAKE LSVSDTDVSE VSWTDNGTFN LSEGYTPQTD TSDDLDRPSE EVFSRDLSDF PSLENGMGTN DEDELSLGLP TELKRKKEQL DSGHRPSKET QSAAGLTLPL NSDQTFHLMS NLAGDVITAA VTAAIKDQLE GVQQALSQAA PIPEEDTDTE EGDDFELLDQ SELDQIESEL GLTQDQEAEA QQNKKSSGFL SNLLGGH. It is sometimes possible for the material contained within the vial of "Protein FAM134B (FAM134B), Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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