RecName: Full=Ganglioside GM2 activator; AltName: Full=Cerebroside sul - Protein

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GM2 Activator Deficiency. [GeneReviews(®). 1993]
GM2 Activator Deficiency.
Xiao C, Toro C, Tifft C. GeneReviews(®). 1993-2024. 2022 Aug 25
Two patients from Turkey with a novel variant in the GM2A gene and review of the literature. [J Pediatr Endocrinol Metab. 2021]
Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.
İnci A, Cengiz Ergin FB, Biberoğlu G, Okur İ, Ezgü FS, Tümer L. J Pediatr Endocrinol Metab. 2021 Jun 25; 34(6):805-812. Epub 2021 Apr 6.
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. [BMC Pediatr. 2016]
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
Sheth J, Datar C, Mistri M, Bhavsar R, Sheth F, Shah K. BMC Pediatr. 2016 Jul 11; 16:88. Epub 2016 Jul 11.

RefSeq genomic sequence
See the genomic reference sequence for the GM2A gene (NG_009059.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the GM2A gene.

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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=Ganglioside GM2 activator; AltName: Full=Cerebroside sulfate activ...
RecName: Full=Ganglioside GM2 activator; AltName: Full=Cerebroside sulfate activator protein; AltName: Full=GM2-AP; AltName: Full=Sphingolipid activator protein 3; Short=SAP-3; Contains: RecName: Full=Ganglioside GM2 activator isoform short; Flags: Precursor
gi|160331912|sp|P17900.4|SAP3_HUMAN

Protein
RecName: Full=Deoxynucleotidyltransferase terminal-interacting protein 1; AltNam...
RecName: Full=Deoxynucleotidyltransferase terminal-interacting protein 1; AltName: Full=Terminal deoxynucleotidyltransferase-interacting factor 1; Short=TdIF1; Short=TdT-interacting factor 1
gi|26400504|sp|Q9H147.2|TDIF1_HUMAN

Protein

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