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Results 1 - 10 of 16 for Spastic paraplegia 1
  1. SPG7 gene 
    ... adhesion regulator CMAR FLJ37308 MGC126331 MGC126332 paraplegin, isoform 1 PGN spastic paraplegia 7 spastic paraplegia 7 (pure and complicated autosomal ...
    https://medlineplus.gov/genetics/gene/spg7 - Genetics
  2. WASHC5 gene 
    ... M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15; ... gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. doi: 10.1086/510782. Epub 2006 ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  3. ATL1 gene 
    ... childhood. Most of the mutations that cause spastic paraplegia type 3A change one protein building block (amino acid) in the atlastin-1 protein. These mutations likely lead to abnormal activity ...
    https://medlineplus.gov/genetics/gene/atl1 - Genetics
  4. PLP1 gene 
    ... time. Generally, PLP1 gene mutations that cause spastic paraplegia type 2 disrupt the production of the proteolipid 1 protein but do not interfere with the production ...
    https://medlineplus.gov/genetics/gene/plp1 - Genetics
  5. FA2H gene 
    ... acid alpha-hydroxylase fatty acid hydroxylase domain containing 1 FAXDC1 FLJ25287 SCS7 spastic paraplegia 35 (autosomal recessive) SPG35 Tests of FA2H PubMed ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  6. SPART gene 
    ... paraplegia 20 spastic paraplegia 20 (Troyer syndrome) spastic paraplegia 20, spartin (Troyer syndrome) SPG20 SPG20_HUMAN TAHCCP1 trans-activated by hepatitis C virus core protein 1 Tests of SPART PubMed SPARTIN; SPART NCBI Gene ...
    https://medlineplus.gov/genetics/gene/spart - Genetics
  7. GJC2 gene 
    ... have some function, which may explain why spastic paraplegia type 44 has similar features to Pelizaeus-Merzbacher-like disease type 1 (described above) but is less severe.Hereditary lymphedema ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
  8. TECPR2 gene 
    ... in the neurological problems that occur in spastic paraplegia type 49. More About This Health Condition KIAA0329 SPG49 tectonin beta-propeller repeat-containing protein 2 isoform 1 tectonin beta-propeller repeat-containing protein 2 isoform ...
    https://medlineplus.gov/genetics/gene/tecpr2 - Genetics
  9. REEP1 gene 
    ... lead to the progressive movement problems of spastic paraplegia type 31; however, the exact mechanism that causes this condition is unknown. More About This Health Condition C2orf23 FLJ13110 receptor expression-enhancing protein 1 REEP1_HUMAN Tests of REEP1 PubMed RECEPTOR EXPRESSION- ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  10. CYP7B1 gene 
    ... and other signs and symptoms characteristic of spastic paraplegia type 5A. More About This Health Condition CBAS3 CP7B cytochrome P450 7B1 cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1 oxysterol 7-alpha-hydroxylase Tests of CYP7B1 PubMed ...
    https://medlineplus.gov/genetics/gene/cyp7b1 - Genetics
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