DISEASES

Disease-gene associations mined from literature

Literature associating SLC10A7 and brachyolmia

SLC10A7 [ENSP00000421275]

Sodium/bile acid cotransporter 7; Involved in teeth and skeletal development. Has an essential role in the biosynthesis and trafficking of glycosaminoglycans and glycoproteins, to produce a proper functioning extracellular matrix. Required for extracellular matrix mineralization (PubMed:30082715, PubMed:29878199). Also involved in the regulation of cellular calcium homeostasis . Does not show transport activity towards bile acids or steroid sulfates (including taurocholate, cholate, chenodeoxycholate, estrone-3-sulfate, dehydroepiandrosterone sulfate (DHEAS) and pregnenolone sulfate). ; Belongs to the bile acid:sodium symporter (BASS) (TC 2.A.28) family.

Synonyms:  SLC10A7,  SLC10A7p,  hSLC10A7,  Q0GE19,  Q0GE19p ...

Linkouts:  STRING  Pharos  UniProt