HOXD13 Antibody – Rabbit Polyclonal

This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]

HOXD13: 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 HOXD13 are the cause of synpolydactyly 1 (SPD1); also known as syndactyly type 2 (SDTY2). SPD1 is a limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. Defects in HOXD13 are the cause of brachydactyly type D (BDD). BDD is characterized by short and broad terminal phalanges of the thumbs and big toes. Inheritance is autosomal dominant. Defects in HOXD13 are the cause of syndactyly type 5 (SDTY5); also known as syndactyly with metacarpal and metatarsal fusion. The metacarpals and metatarsals most commonly fused are the 4th and 5th or the 3rd and 4th. Soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes. Inheritance is autosomal dominant. Defects in HOXD13 are the cause of brachydactyly- syndactyly syndrome (BDSD). Most of affected individuals exhibit generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1. Defects in HOXD13 are the cause of brachydactyly type E (BDE1). BDE is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Inheritance is autosomal dominant. Defects in HOXD13 are a cause of VACTERL association (VACTERL); which includes also VATER association. VACTERL is an acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects. Belongs to the Abd-B homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 2q31.1

Cellular Component: nucleus

Molecular Function: DNA binding; transcription factor activity

Biological Process: multicellular organismal development; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; transcription from RNA polymerase II promoter

Disease: Brachydactyly, Type D; Brachydactyly, Type E1; Brachydactyly-syndactyly Syndrome; Syndactyly, Type V; Synpolydactyly 1; Vater Association