AIPL1 (NM_001033055) Human Untagged Clone

CAT#: SC302690

AIPL1 (untagged)-Human aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 3

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: AIPL1
• Synonyms: AIPL2; LCA4
• Vector: pCMV6 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001033055, the custom clone sequence may differ by one or more nucleotides
  ATGGATGCCGCTCTGCTCCTGAACGTGGAAGGGGTCAAGAAAACCATTCTGCACGGGGGC
  ACGGGCGAGCTCCCAAACTTCATCACCGGATCCCGACACACGGGGGTCTACCCCATCCTA
  TCCCGGAGCCTGAGGCAGATGGCCCAGGGCAAGGACCCCACAGAGTGGCACGTGCACACG
  TGCGGGCTGGCCAACATGTTCGCCTACCACACGCTGGGCTACGAGGACCTGGACGAGCTG
  CAGAAGGAGCCTCAGCCTCTGGTCTTTGTGATCGAGCTGCTGCAGGTTGATGCCCCGAGT
  GATTACCAGAGGGAGACCTGGAACCTGAGCAATCATGAGAAGATGAAGGCGGTGCCCGTC
  CTCCACGGAGAGGGAAATCGGCTCTTCAAGCTGGGCCGCTACGAGGAGGCCTCTTCCAAG
  TACCAGGAGGCCATCATCTGCCTAAGGAACCTGCAGACCAAGGAGAAGCCATGGGAGGTG
  CAGTGGCTGAAGCTGGAGAAGATGATCAATACTCTGATCCTCAACTACTGCCAGTGCCTG
  CTGAAGAAGGAGGAGTACTATGAGGTGCTGGAGCACACCAGTGATATTCTCCGGCACCAC
  CCAGGCATCGTGAAGGCCTACTACGTGCGTGCCCGGGCTCACGCAGAGGTGTGGAATGAG
  GCCGAGGCCAAGGCGGACCTCCAGAAAGTGCTGGAGCTGGAGCCGTCCATGCAGAAGGCG
  GTGCGCAGGGAGCTGAGGCTGCTGGAGAACCGCATGGCGGAGAAGCAGGAGGAGGAGCGG
  CTGCGCTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGCAGAGCCACCCACA
  GAGCCACCCGCACAGTCATCCACAGAGCCACCTGCAGAGCCACCCACAGCACCATCTGCA
  GAGCTGTCCGCAGGGCCCCCTGCAGAGCCAGCCACAGAGCCACCCCCGTCCCCAGGGCAC
  TCGCTGCAGCACTGA
  
• Restriction Sites: Please inquire
• ACCN: NM_001033055
• ORF Size: 975 bp
• OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
• OTI Annotation: This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA.

Reference Data

• RefSeq: NM_001033055.1, NP_001028227.1
• RefSeq Size: 2801
• RefSeq ORF: 975
• Locus ID: 23746
• Protein Families: Druggable Genome
• Gene Summary: Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
  Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.