RecName: Full=V-type proton ATPase 16 kDa proteolipid subunit c; Short - Protein

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ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay. [J Hum Genet. 2023]
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.
Zhao S, Zhang X, Yang L, Wang Y, Jia S, Li X, Wang Z, Yang F, Liang M, Wang X, et al. J Hum Genet. 2023 Sep; 68(9):589-597. Epub 2023 May 10.
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus. [Front Mol Neurosci. 2022]
ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus.
Tian Y, Zhai QX, Li XJ, Shi Z, Cheng CF, Fan CX, Tang B, Zhang Y, He YY, Li WB, et al. Front Mol Neurosci. 2022; 15:889534. Epub 2022 May 6.
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability. [Brain Dev. 2021]
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.
Ittiwut C, Poonmaksatit S, Boonsimma P, Desudchit T, Suphapeetiporn K, Ittiwut R, Shotelersuk V. Brain Dev. 2021 Mar; 43(3):490-494. Epub 2020 Nov 13.

RefSeq protein isoforms
See 2 reference sequence protein isoforms for the ATP6V0C gene.

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P27449 [Domain Mapping of Disease Mut...]
P27449
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
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ExactAntigen/Labome

RecName: Full=V-type proton ATPase 16 kDa proteolipid subunit c; Short=V-ATPase ...
RecName: Full=V-type proton ATPase 16 kDa proteolipid subunit c; Short=V-ATPase 16 kDa proteolipid subunit c; AltName: Full=Vacuolar proton pump 16 kDa proteolipid subunit c
gi|137479|sp|P27449.1|VATL_HUMAN

Protein
MULTISPECIES: YsgD/CorL family protein [Gammaproteobacteria]
MULTISPECIES: YsgD/CorL family protein [Gammaproteobacteria]
gi|2744773415|ref|WP_349815745.1|

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