ADAM12

For the television show, see is_associated_with::Adam 12

Disintegrin and metalloproteinase domain-containing protein 12 is an is_associated_with::enzyme that in humans is encoded by the ADAM12 is_associated_with::gene. ADAM12 has two splice variants: ADAM12-L, the long form, has a transmembrane region and ADAM12-S, a shorter variant, is soluble and lacks the transmembrane and cytoplasmic domains.

Function
This gene encodes a member of the ADAM (is_associated_with::a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom is_associated_with::disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene has two alternatively spliced transcripts: a shorter secreted form and a longer membrane-bound form. The shorter form is found to stimulate myogenesis.

Clinical Significance
ADAM 12, a is_associated_with::metalloprotease that binds insulin growth factor binding protein-3 (IGFBP-3), appears to be an effective early is_associated_with::Down syndrome marker. Decreased levels of ADAM 12 may be detected in cases of trisomy 21 as early as 8 to 10 weeks gestation. Maternal serum ADAM 12 and is_associated_with::PAPP-A levels at 8 to 9 weeks gestation in combination with maternal age yielded a 91% detection rate for Down syndrome at a 5% false-positive rate. When is_associated_with::nuchal translucency data from approximately 12 weeks gestation was added, this increased the detection rate to 97%.

ADAM12 has also been implicated in the development of is_associated_with::pathology in various cancers, is_associated_with::hypertension, is_associated_with::liver fibrogenesis, and is_associated_with::asthma. In asthma, ADAM12 is upregulated in is_associated_with::lung is_associated_with::epithelium in response to is_associated_with::TNF-alpha.

Interactions
ADAM12 has been shown to interact with:
 * ACTN2,
 * is_associated_with::IGFBP3,  and
 * is_associated_with::PIK3R1.