Homo sapiens gamma-aminobutyric acid type A receptor subunit alpha4 (G - Nucleotide

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The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits. [Epilepsia. 2022]
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Ahring PK, Liao VWY, Lin S, Absalom NL, Chebib M, Møller RS. Epilepsia. 2022 Sep; 63(9):2439-2441. Epub 2022 Jul 20.
Differential assembly diversifies GABA(A) receptor structures and signalling. [Nature. 2022]
Differential assembly diversifies GABA(A) receptor structures and signalling.
Sente A, Desai R, Naydenova K, Malinauskas T, Jounaidi Y, Miehling J, Zhou X, Masiulis S, Hardwick SW, Chirgadze DY, et al. Nature. 2022 Apr; 604(7904):190-194. Epub 2022 Mar 30.
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype. [Epilepsia. 2022]
A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Vogel FD, Krenn M, Westphal DS, Graf E, Wagner M, Leiz S, Koniuszewski F, Augé-Stock M, Kramer G, Scholze P, et al. Epilepsia. 2022 Apr; 63(4):e35-e41. Epub 2022 Feb 12.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the GABRA4 gene.
RefSeq protein product
See the reference protein sequence for gamma-aminobutyric acid receptor subunit alpha-4 isoform 2 (NP_001191195.1).

Protein
Protein sequence from Nucleotide coding region
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Ensembl [Ensembl]
Ensembl
GenScript latest version of gene cDNA ORF Clone [GenScript latest version of g...]
GenScript latest version of gene cDNA ORF Clone
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Homo sapiens SMG8 nonsense mediated mRNA decay factor (SMG8), mRNA
Homo sapiens SMG8 nonsense mediated mRNA decay factor (SMG8), mRNA
gi|1890333421|ref|NM_018149.7|

Nucleotide
Scenedesmus sp. KACC 20 small subunit ribosomal RNA gene, partial sequence
Scenedesmus sp. KACC 20 small subunit ribosomal RNA gene, partial sequence
gi|1235731976|gb|MF693876.1|

Nucleotide
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and...
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies

MedGen
C5436530[conceptid] (1)
MedGen

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Nucleotide