Anti-Dymeclin Antibody (CAB8222)
- SKU:
- CAB8222
- Product type:
- Antibody
- Application:
- WB
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Frequently bought together:
Description
| 抗体名: | DYM Rabbit Polyclonal Antibody |
| 抗体コード: | CAB8222 |
| 抗体サイズ: | 20uL, 50uL, 100uL |
| 申し込み: | WB |
| 反応性: | Human |
| 宿主種: | Rabbit |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human DYM (NP_060123.3). |
| 申し込み: | WB |
| 推奨希釈: | WB 1:500 - 1:2000 |
| 反応性: | Human |
| ポジティブサンプル: | 293T, HepG2, HeLa |
| 免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-250 of human DYM (NP_060123.3). |
| 精製方法: | Affinity purification |
| ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| アイソタイプ: | IgG |
| 順序: | 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 |
| 遺伝子ID: | 54808 |
| Uniprot: | Q7RTS9 |
| セルラーロケーション: | Cytoplasm, Golgi apparatus, Lipid-anchor, Membrane |
| 計算された分子量: | 54kDa/75kDa |
| 観察された分子量: | 78kDa |
| 同義語: | DYM, DMC, SMC, dymeclin |
| バックグラウンド: | 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 |
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