MALT1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MALT1 (HGNC:6819) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- MALT1 paracaspase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MLT
- Alias symbols
- PCASP1
- %HI
- 37.84(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.63(Read more about gnomAD pLI score)
- LOEUF
- 0.58(Read more about gnomAD LOEUF score)
- Cytoband
- 18q21.32
- Genomic Coordinates
-
GRCh37/hg19: chr18:56338697-56421709 NCBI Ensembl UCSC GRCh38/hg38: chr18:58671465-58754477 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006785.4 ENST00000649217.2 (Read more about MANE Select)
- Function
- Protease that enhances BCL10-induced activation: acts via formation of CBM complexes that channel adaptive and innate immune signaling downstream of CARD domain-containing proteins (CARD9, CARD11 and CARD14) to activate NF-kappa-B and MAP kinase p38 pathways which stimulate expression of genes encoding pro-inflammatory cytokines and chemokines (PubMed:11262391, PubMed:18264101, PubMed:24074955). Mediates BCL10 cleavage: MALT1-dependent BCL10 cleavage plays an important role in T-cell antigen rec... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-27664
ClinGen Curation ID:
CCID:007429
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- combined immunodeficiency due to MALT1 deficiency Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)