Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen - Wikidata - wikimedia - TriplyDB

Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen

Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen

http://www.wikidata.org/entity/Q50289024

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Defective SLC33A1 causes spastic paraplegia 42 (SPG42)

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Q45314510-146042F9-9682-4C68-B30B-7EC8AA2DDEFE

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Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen

http://www.wikidata.org/entity/Q50289024

description

An instance of the biological ...... to Golgi lumen in Homo sapiens

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biologisch proces

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name

Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen

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type

label

Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen

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prefLabel

Defective SLC33A1 does not transport Ac-CoA from cytosol to Golgi lumen

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Q50289024-2011F854-1C4C-4B72-8CD5-E94B83A73899

Q50289024-79722F28-37EC-49FC-8D25-46F2B2F6C9ED

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Q50289024-6324B43D-3D34-49F3-98C8-D4958D82E953

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Q50289024-29ED49B2-C388-4CB2-9D85-C5FB33DD45C2

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Q50289024-8F7A665D-F30C-4535-812E-636AF1DEF4C1

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Q50289024-0F86F9E6-88B4-455B-BA67-34D24B9C2EB9

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Q50289024-289F89FA-46A5-4EE1-8385-7B416121A9D5

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Q50289024-DB659E52-30FA-4303-8D44-7C7BC39731FA

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A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

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reactome:R-HSA-5649742

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biological process

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Defective SLC33A1 causes spastic paraplegia 42 (SPG42)

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R-HSA-5649742

http://www.w3.org/2001/XMLSchema#string

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acetyl coenzyme a

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