GM2 Activator

Alternative Names

GM2A

Length

17,256 bases

No. of Exons

No. of isoforms

Protein Name

Ganglioside GM2 activator

Molecular Mass

20838 Da

Amino Acid Count

193

Genomic Location

chr5:151,253,185-151,270,440

Gene Map Locus

5q33.1

Description

This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_000405.5:c.164C>T	Saudi Arabia	NC_000005.10:g.151259837C>T	Likely Pathogenic, Pathogenic	Pathogenic	GM2-Gangliosidosis, AB Variant	NG_009059.1:g.11786C>T; NM_000405.5:c.164C>T; NP_000396.2:p.Pro55Leu	730882196	183275
NM_000405.5:c.262_264del	Saudi Arabia	NC_000005.10:g.151266749_151266751del	Likely Pathogenic, Pathogenic	Pathogenic	GM2-Gangliosidosis, AB Variant	NG_009059.1:g.18698_18700del; NM_000405.5:c.262_264del; NP_000396.2:p.Lys88del	1753894328	976256

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External Links

https://medlineplus.gov/genetics/gene/gm2a/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=gm2a

Contributors

Pratibha Nair: 11.05.2023
Asha Deepthi: 30.11.2022
Sayeeda Hana: 09.11.2022

Edit History

Pratibha Nair: 11.05.2023
Asha Deepthi: 30.11.2022
Sayeeda Hana: 09.11.2022

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