Anti-ARL13B Antibody (CAB5200)
- SKU:
- CAB5200
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Research Area:
- Cell Biology
Frequently bought together:
Description
抗体名: | Anti-ARL13B Antibody |
抗体コード: | CAB5200 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB IF |
反応性: | Human, Mouse, Rat |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human ARL13B (NP_878899.1). |
申し込み: | WB IF |
推奨希釈: | WB 1:500 - 1:2000 IF 1:50 - 1:200 |
反応性: | Human, Mouse, Rat |
ポジティブサンプル: | SKOV3 |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-240 of human ARL13B (NP_878899.1). |
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: | MFSL MASC CGWF KRWR EPVR KVTL LMVG LDNA GKTA TAKG IQGE YPED VAPT VGFS KINL RQGK FEVT IFDL GGGI RIRG IWKN YYAE SYGV IFVV DSSD EERM EETK EAMS EMLR HPRI SGKP ILVL ANKQ DKEG ALGE ADVI ECLS LEKL VNEH KCLC QIEP CSAI SGYG KKID KSIK KGLY WLLH VIAR DFDA LNER IQKE TTEQ RALE EQEK QERA ERVR KLRE ERKQ NEQE QAEL |
遺伝子ID: | 200894 |
Uniprot: | Q3SXY8 |
セルラーロケーション: | Cell projection, Lipid-anchor, cilium membrane |
計算された分子量: | 36kDa/37kDa/48kDa |
観察された分子量: | 49kDa |
同義語: | ARL13B, ARL2L1, JBTS8 |
バックグラウンド: | This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. |
UniProt Protein Function: | ARL13B: Defects in ARL13B are the cause of Joubert syndrome type 8 (JBTS8). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Belongs to the small GTPase superfamily. Arf family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:G protein, monomeric; G protein, monomeric, ARF Chromosomal Location of Human Ortholog: 3q11.1 Cellular Component: intracellular; cilium Molecular Function:protein binding; GTP binding Biological Process: formation of radial glial scaffolds; smoothened signaling pathway; dorsal/ventral pattern formation; interneuron migration from the subpallium to the cortex; sensory cilium biogenesis; organelle organization and biogenesis; small GTPase mediated signal transduction; neural tube patterning; cilium biogenesis; heart looping Disease: Joubert Syndrome 8 |
NCBI Summary: | This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010] |
UniProt Code: | Q3SXY8 |
NCBI GenInfo Identifier: | 115503786 |
NCBI Gene ID: | 200894 |
NCBI Accession: | Q3SXY8.1 |
UniProt Secondary Accession: | Q3SXY8,Q504W8, Q8TCL5, D3DN29, G3V1S8, |
UniProt Related Accession: | Q3SXY8 |
Molecular Weight: | Observed: 49kDaCalculated: 36kDa/37kDa/48kDa |
NCBI Full Name: | ADP-ribosylation factor-like protein 13B |
NCBI Synonym Full Names: | ADP-ribosylation factor-like 13B |
NCBI Official Symbol: | ARL13B |
NCBI Official Synonym Symbols: | JBTS8; ARL2L1 |
NCBI Protein Information: | ADP-ribosylation factor-like protein 13B; ARL2-like protein 1; ADP-ribosylation factor-like 2-like 1 |
UniProt Protein Name: | ADP-ribosylation factor-like protein 13B |
UniProt Synonym Protein Names: | ADP-ribosylation factor-like protein 2-like 1; ARL2-like protein 1 |
UniProt Gene Name: | ARL13B |
UniProt Entry Name: | AR13B_HUMAN |
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