spans a 3,7 kb genomic region containing 2 exons

mRNA 2295 bp

313 amino acids, 34.5 kDa, contains a homeodomain with helix-turn-helix (HTH) motif. The HTH motif consists of approximately 20 residues and is characterised by 2 alpha-helices, which make intimate contacts with the DNA and are joined by a short turn. The second helix of the HTH motif binds to DNA via a number of hydrogen bonds and hydrophobic interactions, which occur between specific side chains and the exposed bases and thymine methyl groups within the major groove of the DNA. The first helix helps to stabilise the structure.

in lung, bone, uterus, placenta, testis, prostate, liver, hematopoietic precursor cells, endometrium

nucleus

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. HOXA11 is involved in the regulation of uterine development and is required for female fertility. Expression of HOXA11 is detected at all differentiation stages of normal T cells in the thymus, suggesting a role in normal T cell development.

homolog to murine Hox-1.9; ABD-B homeobox family

Mutation of HOXA11 in radio-ulnar synostosis with amegakaryotic thrombocytopenia; autosomal dominant inheritance; 1-bp deletion in exon 2 of the HOXA11 gene. Deletion of an adenine converted AAC (asparagine) to ACA (threonine), resulting in a premature termination codon and truncation of the remaining 22 amino acids of the HOXA11 protein.