Sandbox Reserved 465

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== '''Medical Implications or Possible Application''' ==
== '''Medical Implications or Possible Application''' ==
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Defects in the KIF1A protein include: spastic paraplegia autosomal recessive type 30 (SPG30), hereditary sensory neuropathy type 2C (HSN2C), and mental retardation autosomal dominant type 9 (MRD9).
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Spastic paraplegia autosomal recessive type 30, or SPG30, is a type of spastic paraplegia. Spastic paraplegia is a neurodegenerative disorder that is characterized by gradual weakness and lower back spasms. The severity of the symptoms and the rate of progression range from case to case. At first, balancing becomes difficult and stiffness and weakness occurs in the legs. This also leads to muscle spasms and dragging of the toes. The SPG30 spreads through the body, loss of bladder function and stiffness of other body parts can occur.
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Hereditary Sensory Neuropathy Type 2C, or HSN2C, is a neurodegenerative disorder that is characterized after a decade of progressive sensory loss in outer body parts, such as the fingers and toes. This sensory loss can lead to ulceration and amputation of these body parts. Also, muscle weakness in the legs and feet is common.
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Mental Retardation Autosomal Dominant Type 9, or MRD9, is characterized by below average intellectual function along with a lack of adaptive behavior.

Revision as of 22:45, 27 April 2012

This Sandbox is Reserved from 13/03/2012, through 01/06/2012 for use in the course "Proteins and Molecular Mechanisms" taught by Robert B. Rose at the North Carolina State University, Raleigh, NC USA. This reservation includes Sandbox Reserved 451 through Sandbox Reserved 500.
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Contents

KIF1A Motor Domain

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Introduction

Structure

Mechanism of Action

Medical Implications or Possible Application

Defects in the KIF1A protein include: spastic paraplegia autosomal recessive type 30 (SPG30), hereditary sensory neuropathy type 2C (HSN2C), and mental retardation autosomal dominant type 9 (MRD9).

Spastic paraplegia autosomal recessive type 30, or SPG30, is a type of spastic paraplegia. Spastic paraplegia is a neurodegenerative disorder that is characterized by gradual weakness and lower back spasms. The severity of the symptoms and the rate of progression range from case to case. At first, balancing becomes difficult and stiffness and weakness occurs in the legs. This also leads to muscle spasms and dragging of the toes. The SPG30 spreads through the body, loss of bladder function and stiffness of other body parts can occur.

Hereditary Sensory Neuropathy Type 2C, or HSN2C, is a neurodegenerative disorder that is characterized after a decade of progressive sensory loss in outer body parts, such as the fingers and toes. This sensory loss can lead to ulceration and amputation of these body parts. Also, muscle weakness in the legs and feet is common.

Mental Retardation Autosomal Dominant Type 9, or MRD9, is characterized by below average intellectual function along with a lack of adaptive behavior.

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