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Bottom, illustration of the AR protein, with primary functional domains labeled (not representative of actual 3-D structure).

Like other nuclear receptors, the AR protein consists of several functional domains: the transactivation domain (also called the transcription-regulation domain or the amino / NH2-terminal domain), the DNA-binding domain, the hinge region, and the steroid-binding domain (also called the carboxyl-terminal ligand-binding domain).

A mutation in one (but not both) results in a minimally affected, fertile, female carrier.

Some carriers have been noted to have slightly reduced body hair, delayed puberty, and/or tall stature, presumably due to skewed X-inactivation.

A genetic female conceived in such a way would receive her father's X chromosome, thus would become a carrier.

Genetic females (46, XX karyotype) have two X chromosomes, thus have two AR genes.

Target genes are transcribed (m RNA) and translated into proteins.

The effects that androgens have on the human body (virilization, masculinization, anabolism, etc.) are not brought about by androgens themselves, but rather are the result of androgens bound to androgen receptors; the androgen receptor mediates the effects of androgens in the human body.AIS is the largest single entity that leads to 46, XY undermasculinized genitalia.in the cytoplasm, and then translocates into the nucleus where it binds to DNA, provided androgen response elements and coactivators are present.However, given the scarcity of fertile AIS men and low incidence of AR mutation, the chances of this occurrence are small.The phenotype of such an individual is a matter of speculation; as of 2010, no such documented case has been published.Grade 7 is indistinguishable from grade 6 until puberty, and is thereafter differentiated by the presence of secondary terminal hair; grade 6 is indicated when secondary terminal hair is present, whereas grade 7 is indicated when it is absent.

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