Homo sapiens glycine amidinotransferase (GATM), transcript variant 2, - Nucleotide

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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. [Mol Genet Metab. 2024]
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, et al. Mol Genet Metab. 2024 May; 142(1):108362. Epub 2024 Mar 2.
Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells. [Sci Rep. 2023]
Evidence of an intracellular creatine-sensing mechanism that modulates creatine biosynthesis via AGAT expression in human HAP1 cells.
Tropak MB, Tkachyova I, Gu R, Lee A, Schulze A. Sci Rep. 2023 Dec 16; 13(1):22392. Epub 2023 Dec 16.
Association of Familial Fanconi Syndrome with a Novel GATM Variant. [Tohoku J Exp Med. 2023]
Association of Familial Fanconi Syndrome with a Novel GATM Variant.
Kudo H, Suzuki R, Kondo A, Nozu K, Nakamura Y, Mikami H, Soma J, Nakaya I. Tohoku J Exp Med. 2023 Aug 23; 260(4):337-340. Epub 2023 Jun 8.

RefSeq alternative splicing
See 11 reference mRNA sequence splice variants for the GATM gene.
RefSeq protein product
See the reference protein sequence for glycine amidinotransferase, mitochondrial isoform 2 (NP_001307944.1).

Protein
Protein sequence from Nucleotide coding region
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Homologene neighbors for GEO Profiles (Select 69553386) (0)
GEO Profiles
SHCBP1L SHC binding and spindle associated 1 like [Homo sapiens]
SHCBP1L SHC binding and spindle associated 1 like [Homo sapiens]
Gene ID:81626

Gene
Gene Links for GEO Profiles (Select 69561302) (1)
Gene
Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 588495
Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 588495
gi|9368521|emb|AL390079.1|

Nucleotide
Homo sapiens G protein-coupled receptor associated sorting protein 2, mRNA (cDNA...
Homo sapiens G protein-coupled receptor associated sorting protein 2, mRNA (cDNA clone MGC:9231 IMAGE:3893954), complete cds
gi|15488891|gb|BC013576.1|

Nucleotide

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Nucleotide