2dl1

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Template:STRUCTURE 2dl1

Contents 1 Solution structure of the MIT domain from human Spartin 2 Disease 3 Function 4 About this Structure 5 Reference

Solution structure of the MIT domain from human Spartin

Disease

[SPG20_HUMAN] Defects in SPG20 are the cause of spastic paraplegia autosomal recessive type 20 (SPG20) [MIM:275900]; also known as Troyer syndrome (TRS). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature.^[1]

Function

[SPG20_HUMAN] May be implicated in endosomal trafficking, or microtubule dynamics, or both.^[2]

About this Structure

2dl1 is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

Reference

1. ↑ Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22. PMID:12134148 doi:10.1038/ng937
2. ↑ Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics. 2003 Apr;81(4):437-41. PMID:12676568