This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq].
Function:
Probable zinc protease. May mediate cell-cell or cell-matrix interactions. Isoform 2 displays alpha-secretase activity for APP. [COFACTOR] Binds 1 zinc ion per subunit (Probable).
Subunit:
Interacts with SH3GL2 and SNX9 through its cytoplasmic tail.
Subcellular Location:
Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.
Tissue Specificity:
Widely expressed. Expressed in chondrocytes. Isoform 2 is highly expressed in liver and heart.
DISEASE:
Cone-rod dystrophy 9 (CORD9) [MIM:612775]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Contains 1 disintegrin domain.
Contains 1 EGF-like domain.
Contains 1 peptidase M12B domain.
SWISS:
Q13443
Gene ID:
8754
Database links:
Entrez Gene: 8754 Human
Entrez Gene: 11502 Mouse
Entrez Gene: 290834 Rat
Omim: 602713 Human
SwissProt: Q13443 Human
SwissProt: Q61072 Mouse
Unigene: 591852 Human
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