RecName: Full=Sorbitol dehydrogenase; Short=SDH; AltName: Full=(R,R)-b - Protein

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Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement. [J Peripher Nerv Syst. 2023]
Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.
Li L, Xie Y, Zeng S, Li X, Lin Z, Huang S, Zhao H, Cao W, Liu L, Liu J, et al. J Peripher Nerv Syst. 2023 Dec; 28(4):608-613. Epub 2023 Aug 22.
Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings. [Acta Neurol Belg. 2024]
Hereditary polyneuropathy with conduction block associated with SORD mutation in three siblings.
Kabeloglu V, Aksoy S, Soysal A. Acta Neurol Belg. 2024 Feb; 124(1):343-347. Epub 2023 Jul 7.
Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy. [BMC Med Genomics. 2022]
Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
Alluqmani M, Basit S. BMC Med Genomics. 2022 Apr 18; 15(1):88. Epub 2022 Apr 18.

RefSeq protein
See the reference protein sequence for sorbitol dehydrogenase (NP_003095.2).

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Q00796 [Domain Mapping of Disease Mut...]
Q00796
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
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Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

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