Cell Biology Antibodies 18
Anti-HOXD13 Antibody (CAB18365)
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- SKU:
- CAB18365
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-HOXD13 Antibody |
| Antibody SKU: | CAB18365 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant protein of human HOXD13. |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human |
| Positive Samples: |
| Immunogen: | Recombinant protein of human HOXD13. |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | Email for sequence |
| Gene ID: | 3239 |
| Uniprot: | P35453 |
| Cellular Location: | |
| Calculated MW: | |
| Observed MW: | Refer to figures |
| Synonyms: | BDE, BDSD, HOX4I, SPD, SPD1, HOXD13 |
| Background: |
| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:DNA-binding Chromosomal Location of Human Ortholog: 2q31.1 Cellular Component: nucleus Molecular Function:DNA binding Biological Process: multicellular organismal development; regulation of transcription, DNA-dependent Disease: Brachydactyly, Type D; Brachydactyly, Type E1; Brachydactyly-syndactyly Syndrome; Syndactyly, Type V; Synpolydactyly 1; Vater Association |
| NCBI Summary: | 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] |
| UniProt Code: | P35453 |
| NCBI GenInfo Identifier: | 223590221 |
| NCBI Gene ID: | 3239 |
| NCBI Accession: | P35453.3 |
| UniProt Related Accession: | P35453 |
| Molecular Weight: | 36,101 Da |
| NCBI Full Name: | Homeobox protein Hox-D13 |
| NCBI Synonym Full Names: | homeobox D13 |
| NCBI Official Symbol: | HOXD13 |
| NCBI Official Synonym Symbols: | BDE; SPD; BDSD; SPD1; HOX4I |
| NCBI Protein Information: | homeobox protein Hox-D13 |
| UniProt Protein Name: | Homeobox protein Hox-D13 |
| UniProt Synonym Protein Names: | Homeobox protein Hox-4I |
| Protein Family: | Homeobox protein |
| UniProt Gene Name: | HOXD13 |
| UniProt Entry Name: | HXD13_HUMAN |
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