The FRMD7 Antibody (PAC060136) is a highly specific tool for studying the FRMD7 protein, which is implicated in the pathogenesis of X-linked congenital nystagmus. This polyclonal antibody, raised in rabbits, has been rigorously validated for use in various research applications, including Western blotting and immunohistochemistry.FRMD7, a member of the FERM domain-containing protein family, is believed to play a crucial role in the development and function of the ocular motor system. Mutations in the FRMD7 gene are associated with abnormal eye movements characteristic of congenital nystagmus, a condition that affects visual acuity and can significantly impact quality of life.
By targeting the FRMD7 protein, researchers can gain insights into the molecular mechanisms underlying congenital nystagmus and potentially identify new therapeutic targets for treating this challenging eye disorder. The FRMD7 Antibody offers a reliable tool for investigating the expression and localization of FRMD7 in various tissues and cell types, facilitating valuable research in the fields of ophthalmology and neurology.
Western Blot. Positive WB detected in: U87 whole cell lysate. All lanes: FRMD7 antibody at 3.7µg/ml. Secondary. Goat polyclonal to rabbit IgG at 1/50000 dilution. Predicted band size: 82, 80 kDa. Observed band size: 82 kDa.
IHC image of PACO60136 diluted at 1:400 and staining in paraffin-embedded human prostate cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
IHC image of PACO60136 diluted at 1:400 and staining in paraffin-embedded human pancreatic cancer performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
Background:
Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.
Synonyms:
FERM domain-containing protein 7, FRMD7
UniProt Protein Function:
FRMD7: Plays a role in neurite development. May play a specific role in the control of eye movement and gaze stability. Defects in FRMD7 are the cause of nystagmus congenital X- linked type 1 (NYS1). NYS1 is a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. 2 isoforms of the human protein are produced by alternative splicing.Protein type: Unknown functionChromosomal Location of Human Ortholog: Xq26.2Cellular Component: cell soma; extracellular space; growth cone; neuron projectionDisease: Nystagmus 1, Congenital, X-linked
UniProt Protein Details:
NCBI Summary:
Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]
