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Rabbit Anti-FRMD7/FITC Conjugated antibody
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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