Transmembrane and Tetratricopeptide Repeat Domains-Containing Protein 3

Alternative Names

TMTC3
SMILE

Length

57,581 bases

No. of Exons

No. of isoforms

Protein Name

Protein O-mannosyl-transferase TMTC3

Molecular Mass

104009 Da

Amino Acid Count

915

Genomic Location

chr12:88,142,306-88,199,886

Gene Map Locus

12q21.32

Description

This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_181783.4:c.211C>T	Lebanon	chr12:88153312		Likely Pathogenic	TMTC3-Related Syndrome	NG_021187.1:g.16017C>T; NM_181783.4:c.211C>T; NP_861448.2:p.Arg71Cys	758540759

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=TMTC3

Contributors

Sayeeda Hana: 25.11.2020

Edit History

Pratibha Nair: 28.04.2021
Sayeeda Hana: 05.04.2021
Sayeeda Hana: 25.11.2020

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