Product Name
SPATA7, cDNA Clone
Full Product Name
SPATA7 cDNA Clone
Product Gene Name
SPATA7 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgacagatt cagaaatgaa cataaagcag gcatctaatt gtgtgacata tgatgccaaa gaaaaaatag ctcctttacc tttagaaggg catgactcaa catgggatga gattaaggat gatgctcttc agcattcctc accaagggca atgtgtcagt attccctgaa gcccccttca actcgtaaaa tctactctga tgaagaagaa ctgttgtatc tgagtttcat tgaagatgta acagatgaaa ttttgaaact tggtttattt tcaaacaggt ttttagaacg actgttcgag cgacatataa aacaaaataa acatttggag gaggaaaaaa tgcgccacct gctgcatgtc ctgaaagtag acttaggctg cacatcggag gaaaactcgg taaagcaaaa tgatgttgat atgttgaatg tatttgattt tgaaaaggct gggaattcag aaccaaatga attaaaaaat gaaagtgaag taacaattca gcaggaacgt caacaatacc aaaaggcttt ggatatgtta ttgtcggcac caaaggatga gaacgagata ttcccttcac caactgaatt tttcatgcct atttataaat caaagcattc agaaggggtt ataattcaac aggtgaatga tgaaacaaat cttgaaactt caactttgga tgaaaatcat ccaagtattt cagacagttt aacagatcgg gaaacttctg tgaatgtcat tgaaggtgat agtgaccctg aaaaggttga gatttcaaat ggattatgtg gtcttaacac atcaccctcc caatctgttc agttctccag tgtcaaaggc gacaataatc atgacatgga gttatcaact cttaaaatca tggaaatgag cattgaggac tgccctttgg atgtttaa
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 SPATA7 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 SPATA7. It may not necessarily be applicable to this product.
NCBI Accession #
BC008656
[Other Products]
UniProt Secondary Accession #
Q5BKY5; Q8WX30; Q96HF3; Q9H0X0; Q9P0W7[Other Products]
UniProt Related Accession #
Q9P0W8[Other Products]
Molecular Weight
51,931 Da
NCBI Official Full Name
Homo sapiens spermatogenesis associated 7, mRNA
NCBI Official Synonym Full Names
spermatogenesis associated 7
NCBI Official Symbol
SPATA7 [Similar Products]
NCBI Official Synonym Symbols
HSD3; LCA3; HSD-3.1; HEL-S-296
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NCBI Protein Information
spermatogenesis-associated protein 7
UniProt Protein Name
Spermatogenesis-associated protein 7
UniProt Synonym Protein Names
HSD-3.1; Spermatogenesis-associated protein HSD3
Protein Family
Spermatogenesis-associated protein
UniProt Gene Name
SPATA7 [Similar Products]
UniProt Synonym Gene Names
HSD3 [Similar Products]
UniProt Entry Name
SPAT7_HUMAN
NCBI Summary for SPATA7
This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
UniProt Comments for SPATA7
SPATA7: May be involved in retinal function. Defects in SPATA7 are the cause of Leber congenital amaurosis type 3 (LCA3). LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in SPATA7 are a cause of retinitis pigmentosa autosomal recessive (ARRP). ARRP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. 3 isoforms of the human protein are produced by alternative splicing.
Chromosomal Location of Human Ortholog: 14q31.3
Cellular Component: axoneme; microtubule cytoskeleton; photoreceptor connecting cilium
Molecular Function: protein binding
Biological Process: photoreceptor cell maintenance
Disease: Leber Congenital Amaurosis 3
Research Articles on SPATA7
1. SPATA7 plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3/juvenile RP patients
Precautions
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Disclaimer
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