RecName: Full=Mitochondrial glutamate carrier 1; Short=GC-1; AltName: - Protein

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De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype. [J Neurogenet. 2021]
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype.
Nicotera AG, Dicanio D, Pironti E, Bonsignore M, Cafeo A, Efthymiou S, Mondello P, Salpietro V, Houlden H, Di Rosa G. J Neurogenet. 2021 Mar-Jun; 35(2):67-73. Epub 2021 Apr 6.
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group. [Eur J Hum Genet. 2019]
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, et al. Eur J Hum Genet. 2019 Nov; 27(11):1692-1700. Epub 2019 Jul 8.
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. [J Inherit Metab Dis. 2017]
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
Reid ES, Williams H, Anderson G, Benatti M, Chong K, James C, Ocaka L, GOSgene, Hemingway C, Little D, et al. J Inherit Metab Dis. 2017 May; 40(3):385-394. Epub 2017 Mar 2.

RefSeq genomic sequence
See the genomic reference sequence for the SLC25A22 gene (NG_023407.1).
RefSeq protein isoforms
See 28 reference sequence protein isoforms for the SLC25A22 gene.

PubMed
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BioSystems
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Q9H936 [Domain Mapping of Disease Mut...]
Q9H936
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
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
ExactAntigen/Labome

protein-L-histidine N-pros-methyltransferase isoform 10 precursor [Mus musculus]
protein-L-histidine N-pros-methyltransferase isoform 10 precursor [Mus musculus]
gi|2463694944|ref|NP_001405501.1|

Protein
protein-L-histidine N-pros-methyltransferase isoform 11 precursor [Mus musculus]
protein-L-histidine N-pros-methyltransferase isoform 11 precursor [Mus musculus]
gi|2463694768|ref|NP_001405502.1|

Protein
Component(Core) Links for Nucleotide (Select 1677500006) (3)
Nucleotide
low-density lipoprotein receptor isoform 1 precursor [Mus musculus]
low-density lipoprotein receptor isoform 1 precursor [Mus musculus]
gi|113195700|ref|NP_034830.2|

Protein

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