Anti-WHRN Antibody (CAB10773)
- SKU:
- CAB10773
- Product type:
- Antibody
- Reactivity:
- Human
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
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 |