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Protein Page:
FRMD7 (human)

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. Note: This description may include information from UniProtKB.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: Xq26.2
Cellular Component: cell soma; extracellular space; growth cone; neuron projection
Disease: Nystagmus 1, Congenital, X-linked
Reference #:  Q6ZUT3 (UniProtKB)
Alt. Names/Synonyms: FERM domain containing 7; FERM domain-containing protein 7; FLJ43346; FRMD7; NYS; NYS1
Gene Symbols: FRMD7
Molecular weight: 81,614 Da
Basal Isoelectric point: 8.05  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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