Myotubularin-Related Protein 2

Alternative Names

MTMR2

Length

92,436 bases

No. of Exons

No. of isoforms

Protein Name

Myotubularin-Related Protein 2

Molecular Mass

73381 Da

Amino Acid Count

643

Genomic Location

chr11:95,832,879-95,924,109

Gene Map Locus

11q21

Description

The MTMR2 gene encodes a lipid phosphatase belonging to the myotubularin family. The protein is found to play a role in the processes of myelin assembly, dendritic spine maintenance and neuron development.

Epidemiology in the Arab World

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Algeria

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_016156.5:c.331dupA	Algeria	chr11:95862298		Pathogenic	Charcot-Marie-Tooth Disease, Type 4B1	NG_008333.1:g.66910dupA; NM_016156.5:c.331dupA; NP_057240.3:p.Arg111LysfsX24

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=MTMR2

Contributors

Sayeeda Hana: 10.03.2020

Edit History

Sayeeda Hana: 10.03.2020

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Myotubularin-Related Protein 2

Alternative Names

Associated Diseases

OMIM Number

NCBI Gene ID

Uniprot ID

Length

No. of Exons

No. of isoforms

Protein Name

Molecular Mass

Amino Acid Count

Genomic Location

Gene Map Locus

Description

Epidemiology in the Arab World

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External Links

Contributors

Edit History

© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.