glycine cleavage system H protein, mitochondrial isoform X3 [Homo sapi - Protein

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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency. [Hum Mol Genet. 2023]
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, et al. Hum Mol Genet. 2023 Mar 6; 32(6):917-933.
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia. [Clin Genet. 2021]
Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia.
Majethia P, Somashekar PH, Hebbar M, Kadavigere R, Praveen BK, Girisha KM, Shukla A. Clin Genet. 2021 Aug; 100(2):201-205. Epub 2021 May 3.
GCSH antisense regulation determines breast cancer cells' viability. [Sci Rep. 2018]
GCSH antisense regulation determines breast cancer cells' viability.
Adamus A, Müller P, Nissen B, Kasten A, Timm S, Bauwe H, Seitz G, Engel N. Sci Rep. 2018 Oct 18; 8(1):15399. Epub 2018 Oct 18.

RefSeq mRNA
See reference mRNA sequence for the GCSH gene (XM_054380024.1).
RefSeq protein isoforms
See 10 reference sequence protein isoforms for the GCSH gene.

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Protein