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AssigneeActive Pass Pharmaceuticals, Inc.
InventorsHongyun Chen, Stephane Le Bihan, Barbara Kulhanek
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The invention provides isolated nucleic acid molecules, designated ABCA6 transporter nucleic acid molecules, which encode novel ABC transporter family members. The invention also provides antisense nucleic acid molecules, recombinant expression vectors containing ABCA6 transporter nucleic acid molecules, host cells into which the expression vectors have been introduced, and non-human transgenic animals in which an ABCA6 transporter gene has been introduced or disrupted. The invention further provides isolated ABCA6 transporter proteins, fusion proteins, antigenic peptides, anti-ABCA6 transporter antibodies, and screening assays for ABCA6 transporter modulators. Diagnostic and therapeutic methods utilizing compositions of the invention are also provided.
An isolated nucleic acid molecule encoding an ABCA6 transporter or a functional fragment thereof, wherein said nucleic acid molecule is selected from the group consisting of:
An oligonucleotide primer comprising at least 12 contiguous nucleotides of SEQ ID NO:
An isolated polypeptide selected from the group consisting of:
A method for detecting an allelic variation of the nucleic acid of SEQ ID NO:
A composition comprising a pharmaceutically effective amount of the nucleic acid molecule of SEQ ID NO:
A composition comprising a pharmaceutically effective amount of an antisense oligonucleotide capable of specifically hybridizing to a portion, or the full length, of SEQ ID NO:
A transgenic knockout mouse whose genome comprises a homozygous disruption in its endogenous ABCA6 gene, wherein said homozygous disruption prevents the expression of a functional ABCA6 protein, and wherein said homozygous disruption results in said transgenic knockout mouse being sterile.
Dependencies are inferred from the claim text.