Home > Product > Antibody > Rabbit Anti-FRMD7/FITC Conjugated antibody
FERM domain-containing protein 7; FRMD7; FRMD7_HUMAN.
Cat:
SL8239R-FITC
Species Reactivity:
(predicted: Human,Mouse,Rat,Dog,Pig,Cow,Horse,)
Immunogen:
KLH conjugated synthetic peptide derived from human FRMD7
Format:
Lyophilized or Liquid
Storage instructions:
Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant
Buffer:
0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Concentration:
1mg/ml
Clonality:
Polyclonal
Isotype:
IgG
Applications:
IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
Host:
Rabbit
Calculated MW:
82kDa
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Unit:
Price: $
Product PDFs
Datasheet:


background:
Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]

Function:
Plays a role in neurite development (By similarity). May play a specific role in the control of eye movement and gaze stability.

Subcellular Location:
Cell projection. Cell projection, growth cone. Note=In undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones.

Tissue Specificity:
Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.

DISEASE:
Defects in FRMD7 are the cause of nystagmus congenital X-linked type 1 (NYS1) [MIM:310700]. 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.

Similarity:
Contains 1 FERM domain.

Database links:

Entrez Gene: 90167 Human

Omim: 300628 Human

SwissProt: Q6ZUT3 Human

Unigene: 170776 Human



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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