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SLC25A13, cDNA Clone

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产品名称: SLC25A13, cDNA Clone
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简单介绍

SLC25A13, cDNA Clone


SLC25A13, cDNA Clone  的详细介绍
Product Name

SLC25A13, cDNA Clone

Full Product Name

SLC25A13 cDNA Clone

Product Gene Name

SLC25A13 cdna clone

[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
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Sequence
atggcggccg ccaaggtggc tttaaccaag agagcagatc cagctgagct tagaacaata tttttgaagt atgcaagcat tgagaaaaac ggtgaatttt tcatgtcccc caatgacttt gtcactcgat acttgaacat ttttggagaa agccagccta atccaaagac tgtggaactt ttaagtggag tggtggatca gaccaaagat ggattaatat cttttcaaga atttgttgcc tttgaatctg tcctgtgtgc ccctgatgct ttgtttatgg tagcctttca gctgtttgac aaagctggca aaggagaagt aacttttgag gatgttaagc aagtttttgg acagaccaca attcatcaac atattccatt taactgggat tcagaatttg tgcaactaca ttttggaaaa gaaagaaaaa gacacctgac atatgcggaa tttactcagt ttttattgga aatacaactg gagcacgcaa agcaagcctt tgtgcaacgg gacaatgcta ggactgggag agtcacagcc atcgacttcc gagacatcat ggtcaccatc cgcccccatg tcttgactcc ttttgtagaa gaatgtctag tagctgctgc tggaggtacc acatcccatc aagttagttt ctcctatttt aatggattta attcgctcct taacaacatg gaactcatta gaaagatcta tagcactctg gctggcacca ggaaagatgt tgaagtgact aaggaggagt ttgttctggc agctcagaaa tttggtcagg ttacacccat ggaagttgac atcttgtttc agttagcaga tttatatgag ccaaggggac gtatgacctt agcagacatt gaacggattg ctcctctgga agagggaact ctgcccttta acttggctga ggcccagagg cagaaggcct caggtgattc agctcgacca gttcttctac aagttgcaga gtcggcctac aggtttggtc tgggttctgt tgctggagct gttggagcca ctgctgtgta tcctatcgat cttgtaaaaa ctcgaatgca gaaccaacga tcaactggct cttttgtggg agaactcatg tataaaaaca gctttgactg ttttaagaaa gtgctacgct atgaaggctt ctttggactg tatagaggtc tgttgccaca gttattggga gttgccccag agaaggccat aaaacttaca gtgaacgatt ttgtgaggga taaatttatg cacaaagatg gttcggtccc acttgcagca gaaattcttg ctggaggctg cgctggaggc tcccaggtga ttttcacaaa tcctttagaa atcgtcaaga tccgtttgca agtggcagga gaaatcacca ctggtcctcg agtcagtgct ctgtctgtcg tgcgggacct ggggtttttt gggatctaca agggtgccaa agcatgcttt ctgcgggaca ttcctttctc ggccatctac tttccgtgct atgctcatgt gaaggcttcc tttgcaaatg aagatgggca ggttagccca ggaagcctgc tcttagctgg tgccatagct ggtatgcctg cagcatcttt agtgacccct gctgatgtta tcaagacgag attacaggtg gctgcccggg ctggccaaac cacttacagc ggagtgatag actgctttag aaagatactg cgtgaagaag gaccaaaagc tctgtggaag ggagctggtg ctcgtgtatt tcgatcctca ccccagtttg gtgtaacttt gctgacttac gaattgctac agcgatggtt ctacattgat tttggaggag taaaacccat gggatcagag ccagttccta aatccaggat caacctgcct gccccgaatc ctgatcacgt tgggggctac aaactggcag ttgctacatt tgcagggatt gaaaacaaat ttggacttta cctacctctc ttcaagccat cagtatctac ctcaaaggct attggtggag gcccatag
OMIM
603471
Vector
pENTR223.1 or pUC
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 SLC25A13 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.
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NCBI/Uniprot data below describe general gene information for SLC25A13. It may not necessarily be applicable to this product.
NCBI GI #
33990891
NCBI GeneID
10165
NCBI Accession #
BC006566 [Other Products]
UniProt Secondary Accession #
O14566; O14575; Q546F9; Q9NZW1; Q9UNI7[Other Products]
UniProt Related Accession #
Q9UJS0[Other Products]
Molecular Weight
74,304 Da
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NCBI Official Full Name
Homo sapiens solute carrier family 25, member 13 (citrin), mRNA
NCBI Official Synonym Full Names
solute carrier family 25 member 13
NCBI Official Symbol
SLC25A13  [Similar Products]
NCBI Official Synonym Symbols
CTLN2; CITRIN; ARALAR2
  [Similar Products]
NCBI Protein Information
calcium-binding mitochondrial carrier protein Aralar2
UniProt Protein Name
Calcium-binding mitochondrial carrier protein Aralar2
UniProt Synonym Protein Names
Citrin; Mitochondrial aspartate glutamate carrier 2; Solute carrier family 25 member 13
Protein Family
Calcium-binding mitochondrial carrier protein
UniProt Gene Name
SLC25A13  [Similar Products]
UniProt Synonym Gene Names
ARALAR2  [Similar Products]
UniProt Entry Name
CMC2_HUMAN
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NCBI Summary for SLC25A13
This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
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UniProt Comments for SLC25A13
SLC25A13: Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle. Defects in SLC25A13 are the cause of citrullinemia type 2 (CTLN2). Citrullinemia belongs to the urea cycle disorders. It is an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. CTLN2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. Defects in SLC25A13 are the cause of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD). NICCD is a form of citrullinemia type 2 with neonatal onset. NICCD is characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. NICCD is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. Belongs to the mitochondrial carrier family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Transporter; Transporter, SLC family; Mitochondrial

Chromosomal Location of Human Ortholog: 7q21.3

Cellular Component: mitochondrial inner membrane; mitochondrion

Molecular Function: acidic amino acid transmembrane transporter activity; calcium ion binding; L-aspartate transmembrane transporter activity; L-glutamate transmembrane transporter activity; structural constituent of ribosome

Biological Process: aspartate transport; ATP biosynthetic process; cellular respiration; gluconeogenesis; L-glutamate transport; malate-aspartate shuttle; response to calcium ion; translation

Disease: Citrullinemia, Type Ii, Adult-onset; Citrullinemia, Type Ii, Neonatal-onset
Research Articles on SLC25A13
1. Structure of the calcium bound and calcium free N- and C-terminal domains is described, elucidating the mechanism of calcium regulation.
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Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
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.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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