Product Description

CCD50 Rabbit Polyclonal Antibody

Sizes: 50μL, 100μL

Catalogue Numbers: ES17777-50, ES17777-100

Lead times: 1-2 weeks, if manufacturer has product in stock

Manufacturer/Ship Location: China

Background: This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008],

Reactivity: Human, Mouse, Rat

Host: Rabbit

Applications: WB

Clonality: Polyclonal

Immunogen: Synthesized peptide derived from human CCD50 AA range: 221-271

Isotype: IgG

Target: CCD50

Specificity: This antibody detects endogenous levels of CCD50 at Human/Mouse/Rat

Dilution: WB 1：500-2000

Purification: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.

Concentration: 1 mg/ml,

Formlation: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Expression: Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas, Only isoform 1 is detected in skeletal muscle, brain and heart,

Molecular Weight (Da): 34kD

Function: Disease: Defects in CCDC50 are the cause of autosomal dominant non-syndromic sensorineural deafness type 44 (DFNA44) [MIM: 607453]. The hearing loss is initially moderate and affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade. The onset of the hearing loss occurs in the 1st decade of life
Function: Involved in EGFR signaling
Miscellaneous: Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found in HSP families
PTM: Phosphorylated on tyrosine residues
Subcellular Location: Associated with microtubules of the cytoskeleton and mitotic apparatus
Tissue Specificity: Isoform 1 and isoform 2 are co-expressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart

Subcellular Location: Cytoplasm Associated with microtubules of the cytoskeleton and mitotic apparatus

Storage and Stability: -20°C/1 year

Gene Name: CCDC50 C3orf6

Protein Name: CCD50

Mouse Gene ID: 67501

Mouse SwissProt Number: Q810U5

Rat Gene ID: 288022

Rat SwissProt Number: Q810U0

Research Use Only