Rabbit anti-Human, Mouse WHRN Polyclonal Antibody | anti-WHRN antibody

WHRN Rabbit pAb

Cat. Num. AAA4759756

• Gene Names: DFNB31; WI; WHRN; CIP98; USH2D; PDZD7B; RP11-9M16.1
• Reactivity: Human, Mouse
• Applications: Western Blot
• Purity: Affinity purified
• Synonyms: WHRN; Polyclonal Antibody; WHRN Rabbit pAb; whirlin; WI; CIP98; USH2D; DFNB31; PDZD7B; anti-WHRN antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Affinity purified
• Form/Format: pH7.4 PBS, 0.05% NaN3, 40% Glycerol
• Concentration: 0.66mg/ml (varies by lot)

• Applicable Applications for anti-WHRN antibody: Western Blot (WB)
• Application Notes: WB: 1:200-1:1000
• Immunogen: Synthetic peptide of human WHRN
• Conjugation: Unconjugated
• Modification: Unmodified
• Preparation and Storage: Store at 4 degree C for short term. Store at -20 degree C for long term. Avoid freeze/thaw cycle.

Western Blot (WB)

(Western Blot analysis of WHRN in 293T, PC-3 and TM4 cell lysates in order using WHRN Rabbit pAb at dilution 1/250)

Related Product Information for anti-WHRN antibody

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 of this gene results in multiple transcript variants encoding different isoforms.

NCBI and Uniprot Product Information

• NCBI GI #: 223462730
• NCBI GeneID: 25861
• UniProt Accession #: Q9P202; Q5TAU9; Q5TAV0; Q5TAV1; Q5TAV2; Q96MZ9; Q9H9F4; Q9UFZ3; A5PKU1; A5PKZ9
• Molecular Weight: 96,586 Da
• NCBI Official Full Name: DFNB31 protein
• NCBI Official Synonym Full Names: deafness, autosomal recessive 31
• NCBI Official Symbol: DFNB31
• NCBI Official Synonym Symbols: WI; WHRN; CIP98; USH2D; PDZD7B; RP11-9M16.1
• NCBI Protein Information: whirlin; CASK-interacting protein CIP98; autosomal recessive deafness type 31 protein
• UniProt Protein Name: Whirlin
• Protein Family: Whirlin
• UniProt Gene Name: DFNB31
• UniProt Synonym Gene Names: KIAA1526; WHRN
• UniProt Entry Name: WHRN_HUMAN

NCBI Description

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 of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

Uniprot Description

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.

Chromosomal Location of Human Ortholog: 9q32

Cellular Component: stereocilium; growth cone; cytoplasm; actin filament; photoreceptor connecting cilium

Molecular Function: protein binding

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

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