Product Name
EFHC1, cDNA Clone
Full Product Name
EFHC1 cDNA Clone
Product Gene Name
EFHC1 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atggtgtcca atcccgtgca tggcttgccc tttcttccgg gcacgtcctt taaggactct acgaaaacag ccttccacag aagtcagacg ctgagctaca ggaacggcta tgcaattgtt cgacgtccaa cagttgggat aggcggagac cggctccagt tcaaccagct gtcccaggct gagctggatg agttggccag taaggcacca gtcttaactt atggccaacc taaacaagcc ccacctgcgg attttattcc tgcgcatgtg gcctttgaca aaaaggtact gaaatttgat gcctatttcc aagaagatgt tcctatgtca actgaggaac agtataggat ccgtcaggtg aacatttact attatctaga agatgacagc atgtctgtca tagagcctgt tgtagaaaat tctggaatcc ttcaaggcaa gttaataaaa cgccagcggc tagccaagaa tgaccggggt gaccattacc attggaaaga cctaaatcga ggaataaaca tcacaattta tggcaaaact ttccgcgttg ttgactgtga ccaattcaca caggtatttt tagaaagcca aggaattgag ttaaatccac cagagaagat ggctcttgat ccttacactg aactccgaaa acagcctctt cgtaagtatg tcaccccatc agactttgat caactcaagc aatttctcac ctttgacaaa caggtccttc gattctatgc aatctgggat gatacagaca gcatgtatgg tgaatgtcgg acctacatca ttcattacta tcttatggat gatacggtgg aaattcgaga ggtccacgaa cggaatgatg ggatagatcc tttcccactc ctaatgaacc gccagcgtgt gcccaaagtt ttggtggaaa atgcaaagaa cttccctcag tgtgtgctag aaatctctga ccaagaagtg ttggaatggt atactgctaa agacttcatt gttgggaagt cactcactat ccttgggaga actttcttca tttatgattg tgatccattt actcgacggt attacaaaga gaagtttgga atcactgatt taccacgtat tgatgtgagc aagcgggaac cacctccagt aaaacaggag ttgcctcctt ataacggttt tggactagtg gaagattctg ctcagaattg ttttgctctc attccaaaag ctccaaaaaa agacgttatt aaaatgctgg tgaatgataa caaggtgctt cgttatttgg ctgtactgga atcccccatc ccagaagaca aagaccgcag atttgtcttc tcttactttc tagctaccga catgatcagt atctttgagc ctcctgttcg caattctggt atcattgggg gcaagtacct tggcaggact aaagttgtta aaccatactc tacagtggac aaccctgtct actatggccc cagtgacttc ttcattggtg ctgtgattga agtgtttggt caccggttca tcatccttga tacagacgag tatgttttga aatacatgga gagcaacgct gcccagtatt caccagaagc actcgcgtca attcagaacc atgtccgaaa gcgagaagcg cctgctccag aagcagaaag caagcaaact gaaaaggatc caggcgtgca ggaattggaa gcattaatag acacaattca gaagcaactg aaagatcact catgcaaaga caacattcgt gaggcatttc aaatttatga caaggaagct tcaggatatg tggacagaga catgttcttt aaaatctgtg aatcgcttaa cgtcccagtg gatgactcct tggttaagga gttactcagg atgtgctctc atggagaagg caaaattaac tactataact ttgttcgtgc tttctcaaac tga
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of EFHC1 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for EFHC1. It may not necessarily be applicable to this product.
NCBI Accession #
BC020210
[Other Products]
UniProt Secondary Accession #
Q5XKM4; Q6E1U7; Q6E1U8; Q8WUL2; Q9NVW6; B4DMU3; F5GZD8[Other Products]
UniProt Related Accession #
Q5JVL4[Other Products]
Molecular Weight
72,021 Da
NCBI Official Full Name
Homo sapiens EF-hand domain (C-terminal) containing 1, mRNA
NCBI Official Synonym Full Names
EF-hand domain containing 1
NCBI Official Symbol
EFHC1??[Similar Products]
NCBI Official Synonym Symbols
EJM1; dJ304B14.2
??[Similar Products]
NCBI Protein Information
EF-hand domain-containing protein 1
UniProt Protein Name
EF-hand domain-containing protein 1
UniProt Synonym Protein Names
Myoclonin-1
Protein Family
EF-hand domain-containing protein
UniProt Gene Name
EFHC1??[Similar Products]
UniProt Entry Name
EFHC1_HUMAN
NCBI Summary for EFHC1
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
UniProt Comments for EFHC1
EFHC1: microtubule-associated protein (MAP) that is abundant in sperm flagella and motile cilia but expressed at low levels in the ***** brain. It is not present in immotile primary cilia. May enhance calcium influx through CACNA1E and stimulate programmed cell death. Interacts with the C-terminus of CACNA1E. Implicated in neuronal migration and may play a role during brain development. Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Two alternatively spliced human isoforms have been described.
Chromosomal Location of Human Ortholog: 6p12.3
Cellular Component: axoneme; cell soma; centrosome
Molecular Function: protein binding; protein C-terminus binding
Biological Process: cerebral cortex cell migration
Disease: Epilepsy, Juvenile Absence, Susceptibility To, 1; Epilepsy, Myoclonic Juvenile
Research Articles on EFHC1
1. some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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