Cell Biology Antibodies 12
Anti-Dymeclin Antibody (CAB8222)
(No reviews yet)
Write a Review
- SKU:
- CAB8222
- Product Type:
- Antibody
- Applications:
- WB
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Description
| Antibody Name: | DYM Rabbit Polyclonal Antibody |
| Antibody SKU: | CAB8222 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human DYM (NP_060123.3). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human |
| Positive Samples: | 293T, HepG2, HeLa |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human DYM (NP_060123.3). |
| 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: | MGSN SSRI GDLP KNEY LKKL SGTE SISE NDPF WNQL LSFS FPAP TSSS ELKL LEEA TISV CRSL VENN PRTG NLGA LIKV FLSR TKEL KLSA ECQN HIFI WQTH NALF IICC LLKV FICQ MSEE ELQL HFTY EEKS PGNY SSDS EDLL EELL CCLM QLIT DIPL LDIT YEIS VEAI STMV VFLS CQLF HKEV LRQS ISHK YLMR GPCL PYTS KLVK TLLY NFIR QEKP PPPG AHVF PQQS DGGG LLYG LA |
| Gene ID: | 54808 |
| Uniprot: | Q7RTS9 |
| Cellular Location: | Cytoplasm, Golgi apparatus, Lipid-anchor, Membrane |
| Calculated MW: | 54kDa/75kDa |
| Observed MW: | 78kDa |
| Synonyms: | DYM, DMC, SMC, dymeclin |
| Background: | This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. |
| UniProt Protein Function: | DYM: Necessary for correct organization of Golgi apparatus. Involved in bone development. Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC). DMC is a rare autosomal recessive disorder characterized by short trunk dwarfism, microcephaly and psychomotor retardation. Electron microscopic study of cutaneous cells of affected patients shows dilated rough endoplasmic reticulum, enlarged and aberrant vacuoles and numerous vesicles. DMC is progressive. Defects in DYM are the cause of Smith-McCort dysplasia (SMC). SMC is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen syndrome. Belongs to the dymeclin family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Membrane protein, integral Chromosomal Location of Human Ortholog: 18q21.1 Cellular Component: Golgi apparatus; cytoplasm Molecular Function:protein binding; enzyme binding Biological Process: Golgi organization and biogenesis Disease: Dyggve-melchior-clausen Disease; Smith-mccort Dysplasia 1 |
| NCBI Summary: | This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008] |
| UniProt Code: | Q7RTS9 |
| NCBI GenInfo Identifier: | 68565365 |
| NCBI Gene ID: | 54808 |
| NCBI Accession: | Q7RTS9.1 |
| UniProt Secondary Accession: | Q7RTS9,Q3ZTS8, Q6P2P5, Q8N2M0, Q9BVE9, Q9NPU7, A8K5I8 B2RCF9, B4DKI7, |
| UniProt Related Accession: | Q7RTS9 |
| Molecular Weight: | 54,425 Da |
| NCBI Full Name: | Dymeclin |
| NCBI Synonym Full Names: | dymeclin |
| NCBI Official Symbol: | DYM |
| NCBI Official Synonym Symbols: | DMC; SMC |
| NCBI Protein Information: | dymeclin; dyggve-Melchior-Clausen syndrome protein |
| UniProt Protein Name: | Dymeclin |
| UniProt Synonym Protein Names: | Dyggve-Melchior-Clausen syndrome protein |
| Protein Family: | Dymeclin |
| UniProt Gene Name: | DYM |
| UniProt Entry Name: | DYM_HUMAN |
View AllClose
Related Products
Human anti-EPO antibody(anti-Erythropoietin antibody) ELISA Kit
system_update_altDatasheet - तकनीकी मैनुअलsystem_update_altMSDS - तकनीक
Human Anti-DSG3 antibody(anti-Desmoglein-3 antibody) ELISA Kit
system_update_altDatasheet - तकनीकी मैनुअलsystem_update_altMSDS - तकनीक
