Medical Knowledge Cockpit radioulnar synostosis with amegakaryocytic thrombocytopenia

HOXA11

• Nomenclature for human homeobox genes

 

HOXA11

Somatic tumors

CML

Tumor types germline

Cancer Syndrom

Translocation partner

NUP98

Name

homeo box A11

Chromosome banding

7p15-p14.2

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease

 

HOXA11

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clustersnamed A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporallyregulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes aDNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Thisgene is involved in the regulation of uterine development and is required for female fertility. Mutations in thisgene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. (provided by RefSeq, Jul 2008)

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clustersnamed A, B, C, and D on four separate chromosomes

Expression of these proteins is spatially and temporallyregulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes aDNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Thisgene is involved in the regulation of uterine development and is required for female fertility. Mutations in thisgene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. (provided by RefSeq, Jul 2008)