Overview

Description

  • Nature
    Synthetic

Specifications

Our Abpromise guarantee covers the use of ab166836 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    Blocking

  • Form
    Liquid

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C. Avoid freeze / thaw cycles.

General Info

  • Alternative names
    • Homeo box 1J
    • Homeo box A13
    • Homeobox 1J
    • Homeobox A13
    • Homeobox protein Hox A13
    • Homeobox protein Hox-1J
    • Homeobox protein Hox-A13
    • Homeobox protein HOXA13
    • Homeobox1J
    • HomeoboxA13
    • HOX 1
    • HOX 1J
    • Hox 1J protein
    • HOX A13
    • HOX1
    • HOX1J
    • HOXA 13
    • HOXA13
    • HXA13_HUMAN
    • Transcription factor HOXA13
    see all
  • Function
    Sequence-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 disease
    Defects 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 similarities
    Belongs to the Abd-B homeobox family.
    Contains 1 homeobox DNA-binding domain.
  • Cellular localization
    Nucleus.
  • Information by UniProt

References

ab166836 has not yet been referenced specifically in any publications.

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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