Human choline acetyltransferase
AssigneeHuman Genome Sciences, Inc.
InventorsPeter J. Hudson, Wei Wu He, Craig A. Rosen, Jeannine D. Gocayne
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Abstract
Human choline acetyltransferase polypeptide and DNA (RNA) encoding such polypeptide and a procedure for producing such polypeptide by recombinant techniques is disclosed. Also disclosed are methods for utilizing such polypeptide for the treatment of cognitive and neurological deficiencies or mental disturbances such as degenerative nervous system disorders, for example, Alzheimer's Disease, ALS and other cholinergic defects, and antagonists for treating Parkinson's Disease and other disorders relating to an over-expression of acetylcholine. Also disclosed are diagnostic methods for detecting a mutation in the human Choline Acetyltransferase nucleic acid sequence.
Claims74
An isolated protein comprising an amino acid sequence selected from the group consisting of:
- (a) amino acid residues 1 to 677 of SEQ ID NO:2;
- (b) amino acid residues 2 to 677 of SEQ ID NO:2;
- (c) amino acid residues 1 to 677 of SEQ ID NO:2, wherein the protein has at least one conservative substitution, and further wherein said protein retains enzymatic activity;
- and
- (d) an amino acid sequence comprising a fragment of amino acid residues 1 to 677 of SEQ ID NO:2, wherein the fragment has enzymatic activity.
An isolated protein comprising an amino acid sequence selected from the group consisting of:
- (a) an amino acid sequence of the full-length polypeptide encoded by the cDNA in ATCC Deposit No. 75856;
- (b) an amino acid sequence of the full-length polypeptide, excluding the N-terminal methionine residue, encoded by the cDNA in ATCC Deposit No. 75856;
- (c) an amino acid sequence of the mature polypeptide encoded by the cDNA in ATCC Deposit No. 75856;
- (d) an amino acid sequence of the full-length polypeptide encoded by the cDNA in ATCC Deposit No. 75856, wherein the amino acid sequence has at least one conservative substitution, and further wherein said polypeptide has enzymatic activity;
- and
- (e) a fragment of the full-length polypeptide encoded by the cDNA in ATCC Deposit No. 75856, wherein the fragment has enzymatic activity.
An isolated non-naturally occurring protein comprising an amino acid sequence selected from the group consisting of:
- (a) amino acid residues 1 to 677 of SEQ ID NO:2;
- (b) amino acid residues 2 to 677 of SEQ ID NO:2;
- (c) amino acid residues 1 to 677 of SEQ ID NO:2, wherein the protein has at least one conservative substitution, and further wherein said protein retains enzymatic activity;
- and
- (d) an amino acid sequence comprising a fragment of amino acid residues 1 to 677 of SEQ ID NO:2, wherein the fragment has enzymatic activity.
An isolated non-naturally occurring protein comprising an amino acid sequence selected from the group consisting of:
- (a) an amino acid sequence of the full-length polypeptide encoded by the cDNA in ATCC Deposit No. 75856;
- (b) an amino acid sequence of the full-length polypeptide, excluding the N-terminal methionine residue, encoded by the cDNA in ATCC Deposit No. 75856;
- (c) an amino acid sequence of the mature polypeptide encoded by the cDNA in ATCC Deposit No. 75856;
- (d) an amino acid sequence of the full-length polypeptide encoded by the cDNA in ATCC Deposit No. 75856, wherein the amino acid sequence has at least one conservative substitution, and further wherein said polypeptide has enzymatic activity;
- and
- (e) a fragment of the full-length polypeptide encoded by the cDNA in ATCC Deposit No. 75856, wherein the fragment has enzymatic activity.
Dependencies are inferred from the claim text.