Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
Storage bufferConstituent: 50% Glycerol
Our Abpromise guarantee covers the use of ab194345 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||1/500 - 1/1000. Predicted molecular weight: 39 kDa.|
FunctionSequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Involvement in diseaseDefects in HOXA13 are the cause of hand-foot-genital syndrome (HFGS) [MIM:140000]; 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) [MIM:176305]. 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.
Sequence similaritiesBelongs to the Abd-B homeobox family.
Contains 1 homeobox DNA-binding domain.
- Information by UniProt
FormThis protein has also been described in cytoplasm.
- Homeo box 1J antibody
- Homeo box A13 antibody
- Homeobox 1J antibody
ab194345 has not yet been referenced specifically in any publications.