Transmembrane and Tetratricopeptide Repeat Domains-Containing Protein 3

Alternative Names

  • TMTC3
  • SMILE

Associated Diseases

TMTC3-Related Syndrome
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OMIM Number

617218

NCBI Gene ID

160418

Uniprot ID

Q6ZXV5

Length

57,581 bases

No. of Exons

15

No. of isoforms

2

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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Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_181783.4:c.211C>TLebanonchr12:88153312PathogenicNG_021187.1:g.16017C>T; NM_181783.4:c.211C>T; NP_861448.2:p.Arg71Cys758540759
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