Medical Knowledge Cockpit leukemia, acute lymphoblastic, susceptibility to

PAX5

• Long-term in vivo reconstitution of T-cell development by Pax5-deficient B-cell progenitors
• BSAP (Pax5)-importin alpha 1 (Rch1) interaction identifies a nuclear localization sequence
• Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family

HOXD4

• Complete mutation analysis panel of the 39 human HOX genes
• Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function

PAX5

Somatic tumors

NHL, ALL, B-ALL

Tumor types germline

Cancer Syndrom

Translocation partner

IGH, ETV6, PML, FOXP1, ZNF521, ELN

Name

paired box gene 5 (B-cell lineage specific activator protein)

Chromosome banding

9p13

Cancer molecular gen.

Dom

Mutation type

T, Mis, D, F, S

Other syndrome disease