Mucosa-Associated Lymphoid Tissue Lymphoma Translocation Gene 1

Alternative Names

  • MALT1
  • MLT
  • Paracaspase

Associated Diseases

Immunodeficiency 12
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OMIM Number

604860

NCBI Gene ID

10892

Uniprot ID

Q9UDY8

Length

78,754 bases

No. of Exons

19

No. of isoforms

2

Protein Name

Mucosa-associated lymphoid tissue lymphoma translocation protein 1

Molecular Mass

92272 Da

Amino Acid Count

824

Genomic Location

chr18:58,671,386-58,754,477

Gene Map Locus
18q21.32

Description

The MALT1 gene codes for an intracellular signaling protein that plays an important role in both the adaptive and innate immune responses. Mutations in this gene are known to result in an autosomal recessive form of combined immunodeficiency.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_006785.3:c.266G>TLebanonchr18:58681226PathogenicPathogenicImmunodeficiency 12NG_033893.1:g.14841G>T; NM_006785.3:c.266G>T; NP_006776.1:p.Ser89Ile39812305866089
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