Cell Biology Antibodies 2

Anti-WHRN Antibody (CAB10773)

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SKU:
CAB10773
Product Type:
Antibody
Reactivity:
Human
Reactivity:
Mouse
Host Species:
Rabbit
Isotype:
IgG
Antibody Type:
Polyclonal Antibody
Research Area:
Cell Biology

Description

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Antibody Name:Anti-WHRN Antibody
Antibody SKU:CAB10773
Antibody Size:20uL, 50uL, 100uL
Application:WB
Reactivity:Human, Mouse
Host Species:Rabbit
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 708-907 of human WHRN (NP_056219.3).
Application:WB
Recommended Dilution:WB 1:500 - 1:2000
Reactivity:Human, Mouse
Positive Samples:U-87MG, HeLa, K-562, Mouse liver
Immunogen:Recombinant fusion protein containing a sequence corresponding to amino acids 708-907 of human WHRN (NP_056219.3).
Purification Method:Affinity purification
Storage Buffer:Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:PSGH PDQT GTNQ HFVM VEVH RPDS EPDV NEVR ALPQ TRTA STLS QLSD SGQT LSED SGVD AGEA EASA PGRG RQSV STKS RSSK ELPR NERP TDGA NKPP GLLE PTST LVRV KKSA ATLG IAIE GGAN TRQP LPRI VTIQ RGGS AHNC GQLK VGHV ILEV NGLT LRGK EHRE AARI IAEA FKTK DRDY IDFL VTEF NVML
Gene ID:25861
Uniprot:Q9P202
Cellular Location:Cell projection, Cytoplasm, growth cone, stereocilium
Calculated MW:37kDa/55kDa/59kDa/96kDa
Observed MW:110kDa
Synonyms:WHRN, CIP98, DFNB31, PDZD7B, USH2D, WI, whirlin
Background:This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants.
UniProt Protein Function:WHRN: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Defects in WHRN are the cause of deafness autosomal recessive type 31 (DFNB31). DFNB31 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Defects in WHRN are the cause of Usher syndrome type 2D (USH2D). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. 4 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:

Chromosomal Location of Human Ortholog: 9q32

Cellular Component: cytoplasm; stereocilium

Molecular Function:protein binding

Biological Process: inner ear receptor stereocilium organization and biogenesis; retinal homeostasis; sensory perception of light stimulus; sensory perception of sound

Disease: Deafness, Autosomal Recessive 31; Usher Syndrome, Type Iid

NCBI Summary:This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
UniProt Code:Q9P202
NCBI GenInfo Identifier:296453079
NCBI Gene ID:25861
NCBI Accession:Q9P202.3
UniProt Secondary Accession:Q9P202,Q5TAU9, Q5TAV0, Q5TAV1, Q5TAV2, Q96MZ9, Q9H9F4 Q9UFZ3, A5PKU1, A5PKZ9,
UniProt Related Accession:Q9P202
Molecular Weight:97kDa
NCBI Full Name:Whirlin
NCBI Synonym Full Names:whirlin
NCBI Official Symbol:WHRN  
NCBI Official Synonym Symbols:WI; CIP98; USH2D; DFNB31; PDZD7B  
NCBI Protein Information:whirlin
UniProt Protein Name:Whirlin
UniProt Synonym Protein Names:Autosomal recessive deafness type 31 protein
Protein Family:Whirlin
UniProt Gene Name:WHRN  
Anti-WHRN Antibody (CAB10773)Western blot analysis of extracts of various cell lines, using WHRN antibody (CAB10773) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 90s.
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