G-protein-coupled receptors

DEFINITION:

G-proteins are proteins embedded in the surface membrane of cells. These proteins "receive chemical signals" from outside the cell (e.g., hormones) and "pass the signal" into the cell, so that the cell can "respond to the signal." For example, a hormone, drug, neurotransmitter, or other "signal" binds to a receptor molecule on the surface of the cell's exterior membrane. That receptor then activates the G-protein, which causes an effector inside the cell to produce a second "signal" chemical inside the cell, which causes the cell to react to the original external chemical signal.

GPCRs

DEFINITION:

G-protein-coupled receptors.

missense mutations

DEFINITION:

See under mutations.

V2 vasopressin receptor

DEFINITION:

The molecular structure within a cell or on the surface to which the antidiuretic hormone, arginine vasopressin binds.

V2

DEFINITION:

Vasopressin-2. See vasopressin-2 gene and vasopressin-2 receptor.

mutated

DEFINITION:

1. Changed in form, quality, or some other characteristic.
2. In genetics, having undergone a permanent transmissible change in the genetic material, usually in a single gene. Also, an individual exhibiting such a change.

truncated

DEFINITION:

Having the end cut squarely off.

E242X

DEFINITION:

E242X is an abbreviation which stands for a specific mutation in the V2 vasopressin receptor. E stands for the specific amino acid glutamic acid. The number indicates the position in the amino acid chain and X says that the receptor protein is truncated at the glutamic acid at position 242 because of a mutation which prematurely terminates the amino acid chain (Schöneberg).

receptor

DEFINITION:

1. A molecular structure within a cell or on the surface characterized by (1) selective binding of a specific substance and (2) a specific physiologic effect that accompanies the binding, e.g., membrane receptors for peptide hormones, neurotransmitters, antigens, complement fragments, and immunoglobulins and nuclear receptors for steroid hormones.

2. A sensory nerve terminal that responds to stimuli of various kinds; classified in various ways including by the type of stimulus and by the location in the body.

V2 receptor - The structure to which the antidiuretic hormone, arginine vasopressin binds.

enzyme-linked immunosorbent assay

DEFINITION:

See ELISA.

association

DEFINITION:

1. A state in which two attributes occur together either more or less often than expected by chance.

2. In neurology, a term applied to those regions of the brain that link the primary motor and sensory cortices; see association areas.

3. In genetics, the occurrence together of two or more phenotypic characteristics more often than would be expected by chance.

4. In psychiatry, a connection between ideas or feelings, especially between conscious thoughts and elements of the unconscious, or the formation of such a connection.

E242X

DEFINITION:

E242X is an abbreviation which stands for a specific mutation in the V2 vasopressin receptor. E stands for the specific amino acid glutamic acid. The number indicates the position in the amino acid chain and X says that the receptor protein is truncated at the glutamic acid at position 242 because of a mutation which prematurely terminates the amino acid chain (Schöneberg).

V2

DEFINITION:

Vasopressin-2. See vasopressin-2 gene and vasopressin-2 receptor.

missense mutations

DEFINITION:

See under mutations.

association

DEFINITION:

1. A state in which two attributes occur together either more or less often than expected by chance.

2. In neurology, a term applied to those regions of the brain that link the primary motor and sensory cortices; see association areas.

3. In genetics, the occurrence together of two or more phenotypic characteristics more often than would be expected by chance.

4. In psychiatry, a connection between ideas or feelings, especially between conscious thoughts and elements of the unconscious, or the formation of such a connection.

N-terminal

DEFINITION:

The amino (NH₂) end of a polypeptide chain, conventionally written to the left; called also NH₂-terminal.

V2

DEFINITION:

Vasopressin-2. See vasopressin-2 gene and vasopressin-2 receptor.

functional

DEFINITION:

1. Of or pertaining to a function.

2. Affecting the function but not the structure.

mutant

DEFINITION:

1. A gene or organism that has undergone genetic mutation.

V2

DEFINITION:

Vasopressin-2. See vasopressin-2 gene and vasopressin-2 receptor.

coexpression

DEFINITION:

To appear with or together.

E242X

DEFINITION:

E242X is an abbreviation which stands for a specific mutation in the V2 vasopressin receptor. E stands for the specific amino acid glutamic acid. The number indicates the position in the amino acid chain and X says that the receptor protein is truncated at the glutamic acid at position 242 because of a mutation which prematurely terminates the amino acid chain (Schöneberg).

functional

DEFINITION:

1. Of or pertaining to a function.

2. Affecting the function but not the structure.

coexpression

DEFINITION:

To appear with or together.

E242X

DEFINITION:

E242X is an abbreviation which stands for a specific mutation in the V2 vasopressin receptor. E stands for the specific amino acid glutamic acid. The number indicates the position in the amino acid chain and X says that the receptor protein is truncated at the glutamic acid at position 242 because of a mutation which prematurely terminates the amino acid chain (Schöneberg).

mutational

DEFINITION:

Pertaining to mutation.

conserved

DEFINITION:

Kept from loss, decay, waste, or injury; preserved.

GPCRs

DEFINITION:

G-protein-coupled receptors.

V2

DEFINITION:

Vasopressin-2. See vasopressin-2 gene and vasopressin-2 receptor.

model

DEFINITION:

1. Something that represents or simulates something else; a replica.
2. A reasonable facsimile of the body or any of its parts; used for demonstration and teaching purposes.
3. Cast, definition 5.
4. To imitate another's behavior; See modeling .
5. A hypothesis or theory.

lateral

DEFINITION:

1. Denoting a position farther from the median plane or midline of the body or of a structure.

2. Pertaining to a side.

permission

DEFINITION:

Formal consent; authorization.