multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.
MONDO:0002013
lymphangioma
is_a
DKFZp434L132
exact
MALT1 wt allele
exact
MLT
exact
MLT1
exact
cutaneovisceral angiomatosis-thrombocytopenia syndrome
exact
mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele
exact
multifocal lymphangioendotheliomatosis with thrombocytopenia
exact