| VPS13A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | VPS13A , CHAC, CHOREIN, vacuolar protein sorting 13 homolog A | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 605978 MGI: 2444304 HomoloGene: 22068 GeneCards: VPS13A | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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VPS13A (Vacuolar protein sorting-associated protein 13A) is a protein that in humans is encoded by the VPS13A gene. [5] [6] [7]
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [7]
Chorea-acanthocytosis is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.
Acanthocyte, in biology and medicine, refers to an abnormal form of red blood cell that has a spiked cell membrane, due to thorny projections. A similar term is spur cells. Often they may be confused with echinocytes or schistocytes.
Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.
XK is a protein found on human red blood cells and other tissues which is responsible for the Kx antigen which helps determine a person's blood type.
McLeod syndrome is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive protein for the Kell antigen on the red blood cell surface.
Intermembrane lipid transfer protein VPS13B, also known as vacuolar protein sorting-associated 13B, and Cohen syndrome protein 1 is a protein that in humans is encoded by the VPS13B gene. It is a giant protein associated with the Golgi apparatus that is believed to be involved in post-Golgi apparatus sorting and trafficking. Mutations in the human VPS13B gene cause Cohen syndrome.
V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 gene.
Myotilin is a protein that in humans is encoded by the MYOT gene. Myotilin also known as TTID is a muscle protein that is found within the Z-disc of sarcomeres.
V-type proton ATPase 116 kDa subunit a isoform 1 is an enzyme that in humans is encoded by the ATP6V0A1 gene.
V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.
V-type proton ATPase subunit d 1 is an enzyme that in humans is encoded by the ATP6V0D1 gene.
V-type proton ATPase subunit D is an enzyme that in humans is encoded by the ATP6V1D gene.
V-type proton ATPase subunit F is an enzyme that in humans is encoded by the ATP6V1F gene.
V-type proton ATPase subunit e 1 is an enzyme that in humans is encoded by the ATP6V0E1 gene.
Lysine-specific demethylase 3B is an enzyme that in humans is encoded by the KDM3B gene. KDM3B belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily.
Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.
Vacuolar protein sorting-associated protein 33B is a protein that in humans is encoded by the VPS33B gene.
Dyslexia-associated protein KIAA0319 is a protein which in humans is encoded by the KIAA0319 gene.
Vacuolar protein sorting-associated protein 13D is a protein that in humans is encoded by the VPS13D gene.
Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.
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