RHBG
Description
The RHBG (Rh family B glycoprotein) is a protein-coding gene located on chromosome 1.
RHBG, or Rh family, B glycoprotein, is an ammonia transporter protein encoded by the RHBG gene. RHBG and RHCG are non-erythroid members of the Rhesus (Rh) protein family, primarily expressed in the kidney. They belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini.
RHBG is an ammonium transporter involved in maintaining acid-base homeostasis. It transports ammonium and methylammonium across the basolateral plasma membrane of epithelial cells, contributing to renal transepithelial ammonia transport and metabolism. RHBG can transport either NH4+ or NH3 ammonia species, primarily mediating an electrogenic NH4+ transport. It may also act as a CO2 channel, facilitating renal acid secretion.
RHBG is also known as SLC42A2.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- hemochromatosis type 5
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- hereditary hyperferritinemia with congenital cataracts
- colorectal cancer
- breast cancer
- cancer
- urinary bladder carcinoma
