ARL13B Antibody (PACO07839)
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주문- SKU:
- PACO07839
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IF
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
Antibody Name: | ARL13B Antibody (PACO07839) |
Antibody SKU: | PACO07839 |
Size: | 50ul |
Host Species: | Rabbit |
Tested Applications: | ELISA, WB, IF |
Recommended Dilutions: | |
Species Reactivity: | Human, Mouse, Rat |
Immunogen: | Human ARL13B |
Form: | Liquid |
Storage Buffer: | PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
Purification Method: | Antigen Affinity purified |
Clonality: | Polyclonal |
Isotype: | IgG |
Conjugate: | Non-conjugated |
Synonyms: | ADP-ribosylation factor-like 13B;ARL13B;ARL2L1;DKFZp686E2075;DKFZp686L2472;DKFZp686M2074;DKFZp761H079;JBTS8;MGC120611;MGC120612 ; |
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 |