PDF DatasheetAntibody (Suitable for clinical applications)
Sample Type: FFPE Patient Samples.
Tested Applications: IHC. Approved for In Vitro Diagnostic Procedures on FFPE tissues. For tissue collection recommendations, please see datasheet sent with product.
Application Notes
| Specification | Recommendation |
|---|---|
| Recommended Dilution (Conc) | 1:50-1:100 |
| Pretreatment | EDTA Buffer pH 8.0 |
| Incubation Parameters | 30 min at Room Temperature |
Prior to use, inspect vial for the presence of any precipitate or other unusual physical properties. These can indicate that the antibody has degraded and is no longer suitable for patient samples. Please run positive and negative controls simultaneously with all patient samples to account and control for errors in laboratory procedure. Use of methods or materials not recommended by enQuire Bio including change to dilution range and detection system should be routinely validated by the user.
Clonality: Monoclonal
Anti-Microphthalmia Transcription Factor Antibody Clone: D5
Host and Isotype: Mouse IgG1
Recommended Positive Control Sample: Melanoma
Cellular Localization of Antibody D5 Staining: Nuclear
Buffer and Stabilizer: PBS with 1% BSA and 0.05% NaN3
Antibody Concentration: Lot specific. Plese contact tech support for data.
Immunogen: BALB/C mice were injected with N-terminal fragment of human Mi protein.
Storage Conditions: This antibody should be stored refrigerated (2-8°C). This product should not be used past the expiration date printed on the vial.
Microphthalmia Transcription Factor Information for Pathologists
| Microphthalmia Transcription Factor General Information | |
|---|---|
| Alternate Names | |
| Molecular Weight | |
| 58.8 kDa | |
| Chromosomal Location | |
| p13 [chr: 3] [chr_start: 69739435] [chr_end: 69968337] [strand: 1] | |
| Curated Database and Bioinformatic Data | |
| Gene Symbol | MITF |
| Entrez Gene ID | 4286 |
| RefSeq Protein Accession(s) | XP_005264812; NP_937802; XP_005264811; NP_001171896; NP_937820; XP_016861933; XP_016861937; NP_006713; NP_000239; NP_937801; NP_937821 |
| RefSeq mRNA Accession(s) | NM_001354606; NM_198158; NM_001354607; NM_006722; NM_198159; NM_001184967; NM_000248; NM_001354605; NM_198177; NM_001184968; NM_001354608; NM_001354604; NM_198178 |
| RefSeq Genomic Accession(s) | NC_000003; NG_011631 |
| UniProt ID(s) | O75030 |
| PharmGKB ID(s) | PA30823 |
| KEGG Gene ID(s) | hsa:4286 |
| Associated Diseases (KEGG IDs) | Waardenburg syndrome 2A (WS2A) [MIM:193510]: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. {ECO:0000269|PubMed:28236341, ECO:0000269|PubMed:8589691}. The disease is caused by mutations affecting the gene represented in this entry.; Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA) [MIM:103470]: A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis. {ECO:0000269|PubMed:9647758}. The disease is caused by mutations affecting the gene represented in this entry.; Tietz albinism-deafness syndrome (TADS) [MIM:103500]: An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness. {ECO:0000269|PubMed:10851256}. The disease is caused by mutations affecting the gene represented in this entry.; Melanoma, cutaneous malignant 8 (CMM8) [MIM:614456]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269|PubMed:22012259, ECO:0000269|PubMed:22080950}. Disease susceptibility is associated with variations affecting the gene represented in this entry.; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) [MIM:617306]: An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis. {ECO:0000269|PubMed:27889061}. The disease is caused by mutations affecting the gene represented in this entry. An allelic combination involving at least one dominant-negative mutation, inherited in a recessive manner, represents the underlying molecular mechanism leading to COMMAD syndrome. {ECO:0000269|PubMed:27889061}.; Variations affecting this gene are associated with susceptibility to pheochromocytomas and paragangliomas, rare neural crest-derived tumors with an approximate incidence of 1:300,000/year. {ECO:0000269|PubMed:27680874}. |
| General Description of Microphthalmia Transcription Factor . | |
| This antibody reacts with a 52-56 kDa protein known as microphthalmia (Mi). This antibody reacts with both melanocytic and non-melanocytic isoforms of Mi. Mi is a basic helix-loop-helix-leucine zipper (b-HLH-ZIP) transcription factor implicated in pigmentation, mast cells and bone development. There are two known isoforms of Mi differing by 66 amino acids at the amino terminus. | |
Limitations and Warranty
This antibody is manufactured in accordance with clinical good manufacturing practices in an ISO13485:2016 certified production facility. It is intended for multiple uses including in vitro diagnostic use and research use only applications. Please see vial label for expiration date. We strive to always deliver antibodies with a shelf life of at least two years.
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