HOXA13 Antibody (C-Term) Blocking Peptide

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]

HOXA13: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Defects in HOXA13 are the cause of hand-foot-genital syndrome (HFGS); also known as hand-foot-uterus syndrome. The clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract. Defects in HOXA13 are the cause of Guttmacher syndrome (GUTTS). Guttmacher syndrome is a dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot- genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. Belongs to the Abd-B homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 7p15.2

Cellular Component: intermediate filament cytoskeleton; nucleus

Molecular Function: DNA binding

Biological Process: skeletal development

Disease: Hand-foot-genital Syndrome; Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias