基因名称(Gene Name)
HOXD13 HOX4I
蛋白名称
Homeobox protein Hox-D13 (Homeobox protein Hox-4I)
免疫原
Synthesized peptide derived from part region of human protein
特异性
HXD13 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
caution:It is uncertain whether Met-1 or Met-9 is the initiator.,disease:Defects in HOXD13 are the cause of brachydactyly type D (BDD) [MIM:113200]. BDD is characterized by short and broad terminal phalanges of the thumbs and big toes. Inheritance is autosomal dominant.,disease:Defects in HOXD13 are the cause of brachydactyly type E (BDE) [MIM:113300]. BDE is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Inheritance is autosomal dominant.,disease:Defects in HOXD13 are the cause of brachydactyly-syndactyly syndrome (BDSD) [MIM:610713]. 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.,disease:Defects in HOXD13 are t
