Transglutaminase 6

Alternative Names

  • TGM6
  • TG6
  • Transglutaminase Y
  • TGY

Associated Diseases

Spinocerebellar Ataxia 35
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OMIM Number

613900

NCBI Gene ID

343641

Uniprot ID

O95932

Length

51,853 bases

No. of Exons

13

No. of isoforms

2

Protein Name

Protein-glutamine gamma-glutamyltransferase 6

Molecular Mass

79312 Da

Amino Acid Count

706

Genomic Location

chr20:2,380,900-2,432,752

Gene Map Locus
20p13

Description

The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_198994.3:c.1024C>TLebanonNC_000020.11:g.2403431C>TLikely PathogenicLikely PathogenicSpinocerebellar Ataxia 35NG_031917.1:g.27524C>T; NM_198994.3:c.1024C>T; NP_945345.2:p.Arg342Trp1505666971333238
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