Kufor–Rakeb syndrome
Kufor–Rakeb syndrome |
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Classification and external resources |
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OMIM |
606693 |
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Kufor–Rakeb syndrome is an autosomal recessive disorder.[1]
It can be associated with ATP13A2
References
- ↑ Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ (October 2005). "Kufor–Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia". Mov. Disord. 20 (10): 1264–71. doi:10.1002/mds.20511. PMID 15986421.
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| ATP1 | |
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| ATP2 | |
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| ATP7 | |
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| ATP13 | |
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| Other | |
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| see also ATPase
Index of cells |
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| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
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| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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