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company name :
MyBioSource
product type :
cDNA
product name :
ARL13B cDNA Clone
catalog :
MBS1274542
quantity :
0.01 mg Plasmid + 0.
price :
165 USD
more info or order :
product information
catalog number :
MBS1274542
products type :
cDNA Clone
products full name :
ARL13B cDNA Clone
products short name :
ARL13B
other names :
Homo sapiens ADP-ribosylation factor-like 13B, mRNA; ADP-ribosylation factor-like protein 13B; ADP-ribosylation factor-like protein 13B; ADP ribosylation factor like GTPase 13B; ADP-ribosylation factor-like protein 2-like 1; ARL2-like protein 1
products gene name :
ARL13B
other gene names :
ARL13B; ARL13B; JBTS8; ARL2L1; ARL2L1; ARL2-like protein 1
uniprot entry name :
AR13B_HUMAN
sequence length :
2453
sequence :
ATGTTCAGTCTGATGGCCAGTTGCTGCGGCTGGTTCAAG
CGGTGGCGGGAGCCTGTCAGAAAGGTGACTCTTTTGATG
GTGGGACTTGATAATGCTGGTAAAACCGCAACAGCAAAG
GGAATCCAAGGAGAATACCCTGAAGATGTAGCTCCTACT
GTTGGATTTTCAAAAATTAACCTTAGACAAGGAAAGTTT
GAAGTCACCATCTTTGACTTGGGAGGTGGAATAAGAATT
CGGGGAATCTGGAAGAATTACTATGCTGAATCCTATGGG
GTAATATTTGTTGTGGATTCCAGTGATGAAGAGAGAATG
GAAGAGACAAAAGAGGCTATGTCAGAAATGCTAAGACAT
CCTAGGATATCGGGAAAGCCTATATTGGTGTTGGCAAAT
AAACAAGATAAAGAAGGAGCTTTAGGAGAAGCTGATGTC
ATTGAATGTCTATCTCTGGAAAAATTGGTCAATGAGCAC
AAGTGCCTGTGTCAGATAGAACCATGTTCAGCAATCTCG
GGGTATGGAAAGAAAATTGACAAGTCCATTAAAAAAGGC
CTTTATTGGCTGCTACATGTTATTGCAAGAGACTTTGAT
GCCTTAAATGAACGCATCCAAAAAGAGACAACAGAGCAG
CGTGCTCTTGAGGAACAAGAGAAACAAGAAAGAGCTGAA
CGAGTGCGAAAATTACGAGAAGAAAGAAAACAAAATGAA
CAGGAGCAGGCTGAACTCGATGGAACCAGTGGTCTGGCT
GAGTTGGACCCAGAACCAACGAATCCTTTCCAGCCAATA
GCATCTGTAATCATTGAGAATGAAGGAAAACTTGAAAGA
GAGAAAAAAAACCAAAAAATGGAGAAAGACAGTGATGGC
TGCCACCTGAAACATAAAATGGAGCATGAGCAAATAGAG
ACACAAGGCCAGGTTAATCACAATGGCCAAAAAAATAAT
GAATTTGGACTAGTAGAAAATTATAAGGAGGCATTAACA
CAGCAGTTAAAGAATGAAGATGAGACAGACCGGCCATCA
TTGGAATCAGCTAATGGTAAAAAGAAAACTAAGAAACTA
AGAATGAAAAGGAACCACCGGGTAGAACCACTTAATATA
GATGACTGTGCTCCTGAGAGTCCAACGCCACCCCCACCC
CCTCCTCCTGTTGGCTGGGGAACCCCTAAAGTCACTAGA
CTTCCAAAACTTGAGCCTCTTGGTGAAACACATCATAAT
GATTTCTATAGGAAGCCACTGCCTCCCCTGGCTGTGCCA
CAGCGACCTAACAGTGATGCTCATGATGTGATCTCATAA
other info1 :
Vector: Please Inquire
ncbi gi num :
74355659
ncbi acc num :
BC104035
ncbi mol weight :
37,087 Da
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 summary :
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. Protein type: G protein, monomeric; G protein, monomeric, ARF. Chromosomal Location of Human Ortholog: 3q11.1. Cellular Component: cilium. Molecular Function: protein binding. Biological Process: cilium biogenesis; formation of radial glial scaffolds; interneuron migration from the subpallium to the cortex; neural tube patterning; sensory cilium biogenesis; smoothened signaling pathway. Disease: Joubert Syndrome 8
size1 :
0.01 mg Plasmid + 0.2 mL Glycerol-Stock
price1 :
165 USD
more info or order :
company information
MyBioSource
P.O. Box 153308
San Diego, CA 92195-3308
sales@mybiosource.com
https://www.mybiosource.com
1-888-627-0165
headquarters: USA
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