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BFSP2 Rabbit pAb (APR19650N)

CAT: 0882-APR19650N-01Size: 50 µLDry Ice: NoHazardous: No
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CAT#:0882-APR19650N-01Size:50 µL
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24/48H Stock Items & 2 to 6 Weeks non Stock Items.
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Background
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF) . Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex.
Overview
We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality BFSP2 Rabbit pAb (APR19650N) .
Synonyms
BFSP2; CP47; CP49; CTRCT12; LIFL-L; PHAKOSIN; phakinin
Gene ID
8419
UniProt
Q13515
Cellular Locus
Cell membrane, Cytoplasm, Cytoplasmic side, Peripheral membrane protein, cell cortex, cytoskeleton
Dilution
WB 1:500 - 1:2000
Form
Liquid
Buffer
Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Molecular Weight
Calculated MW: 45kDa Observed MW: 46kDa
Storage Conditions
Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.
Gene ID URL
https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8419
Uniprot URL
https://www.uniprot.org/uniprot/Q13515
AA Sequence
VEYMAKVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

UniProtKB · Q13515

Phakinin

BFSP2_HUMAN · Homo sapiens

View on UniProt ↗
Primary accession
Q13515
Review status
UniProtKB reviewed (Swiss-Prot)
Gene
BFSP2
Protein existence
1: Evidence at protein level
Organism
Homo sapiens (Human)
Taxonomy ID
9606
Alternative names
—
EC number
—
Processing
—
Secondary accessions
Q14D32, Q9HBW5
Protein keywords

PTM

AcetylationPhosphoprotein

Disease

CataractDisease variant

Cellular component

Cell membraneCytoplasmCytoskeletonIntermediate filamentMembrane

Domain

Coiled coilRepeat

Molecular function

Eye lens protein

Technical term

Proteomics identificationReference proteome

Biological process

Sensory transductionVision

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