产品名称
HXD13 Rabbit Polyclonal Antibody
蛋白名称
Homeobox protein Hox-D13 (Homeobox protein Hox-4I)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
P35453
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P35453/entry
Mouse Swissprot No.
P70217
Mouse Swissprot Link
http://www.uniprot.org/uniprot/P70217
免疫原
Synthesized peptide derived from part region of human protein
特异性
HXD13 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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 the cause of syndactyly type 5 [MIM:186300]; 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.,disease:Defects in HOXD13 are the cause of synpolydactyly (SPD) [MIM:186000]; also known as syndactyly type 2. SPD 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.,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.,polymorphism:The poly-Ala region is polymorphic (11 to 15 residues) in the normal population and is expanded to about 22-29 residues in SPD and syndactyly type 5 patients.,similarity:Belongs to the Abd-B homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.