Literature summary for 3.4.24.B9 extracted from

Parry, D.A.; Toomes, C.; Bida, L.; Danciger, M.; Towns, K.V.; McKibbin, M.; Jacobson, S.G.; Logan, C.V.; Ali, M.; Bond, J.; Chance, R.; Swendeman, S.; Daniele, L.L.; Springell, K.; Adams, M.; Johnson, C.A.; Booth, A.P.; Jafri, H.; Rashid, Y.; Banin, E.; Strom, T.M.; Farber, D.B.; Sharon, D.; Blobel, C.P.; Pugh, E.
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice (2009), Am. J. Hum. Genet., 84, 683-691.

Protein Variants

Protein Variants	Comment	Organism
additional information	identification of null mutations in the ADAM metallopeptidase domain 9, ADAM9, gene in four consanguineous families with recessively inherited early-onset cone-rod dystrophy, a group of genetically and phenotypically heterogenous retinal disorders, which is an inherited progressive retinal dystrophy affecting the function of cone and rod photoreceptors, phenotype, overview	Homo sapiens
additional information	reduced photoreceptor responses occur in Adam9 knockout mice. In 12-month-old knockout mice, photoreceptors appear normal, but the apical processes of the retinal pigment epithelium cells are disorganized and contact between photoreceptor outer segments, POSs, and the RPE apical surface is compromised. In 20-month-old mice, there is clear evidence of progressive retinal degeneration with disorganized POS and thinning of the outer nuclear layer in addition to the anomaly at the POS-RPE junction. RPE basal deposits and macrophages are also apparent in older mice, phenotypes, overview	Mus musculus

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-
Mus musculus	-	-	-

Source Tissue	Comment	Organism	Textmining
eye	-	Mus musculus	-
eye	-	Homo sapiens	-
retina	apical surface of the retinal pigment epithelium	Mus musculus	-
retina	apical surface of the retinal pigment epithelium	Homo sapiens	-
retinal pigment epithelium	-	Mus musculus	-
retinal pigment epithelium	-	Homo sapiens	-

Synonyms	Comment	Organism
ADAM metallopeptidase domain 9	-	Mus musculus
ADAM metallopeptidase domain 9	-	Homo sapiens
ADAM9	-	Mus musculus
ADAM9	-	Homo sapiens
metalloprotease ADAM9	-	Mus musculus
metalloprotease ADAM9	-	Homo sapiens
More	ADAM9 is a widely expressed and particularly polyvalent member of the multifunctional ADAM family of proteins	Mus musculus
More	ADAM9 is a widely expressed and particularly polyvalent member of the multifunctional ADAM family of proteins	Homo sapiens

General Information	Comment	Organism
additional information	ADAM9 is a widely expressed and particularly polyvalent member of the multifunctional ADAM family of proteins	Mus musculus
additional information	ADAM9 is a widely expressed and particularly polyvalent member of the multifunctional ADAM family of proteins	Homo sapiens
physiological function	ADAM9 is involved in cell-matrix interactions	Mus musculus
physiological function	ADAM9 is involved in cell-matrix interactions	Homo sapiens