DISEASES

Disease-gene associations mined from literature

Literature associating SLC9A3R1 and hypophosphatemia

SLC9A3R1 [ENSP00000262613]

Solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1; Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Necessary for recycling of internalized ADRB2. Was first known to play a role in the regulation of the activity and subcellular location of SLC9A3. Necessary for cAMP-mediated phosphorylation and inhibition of SLC9A3. May enhance Wnt signaling. May participate in HTR4 targeting to microvilli (By similarity). Involved in the regulation of phosphate reabsorption in the renal proximal tubules. Involved in sperm capacitation. May participate in the regulation of the chloride and bicarbonate homeostasis in spermatozoa; PDZ domain containing

Synonyms:  SLC9A3R1,  B3KY21,  J3QRP6,  O14745,  SLC9A3R1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM