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Rabbit Anti-HOXD10/FITC Conjugated antibody
background:
This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
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.
Tissue Specificity:
Strongly expressed in the adult male and female urogenital tracts.
DISEASE:
Defects in HOXD10 are a cause of congenital vertical talus (CVT) [MIM:192950]; also known as rocker-bottom foot deformity or congenital convex pes valgus. CVT is a dislocation of the talonavicular joint, with rigid dorsal dislocation of the navicular over the neck of the talus. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity.
Similarity:
Belongs to the Abd-B homeobox family.
Contains 1 homeobox DNA-binding domain.
Database links:
Entrez Gene: 3236 Human
Entrez Gene: 15430 Mouse
Omim: 142984 Human
SwissProt: P28358 Human
SwissProt: P28359 Mouse
Unigene: 123070 Human
Unigene: 24420 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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