1. Mendelian
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  3. SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1; SLC4A1

Solute Carrier Family 4 (anion Exchanger), Member 1; Slc4a1

Table of contents:

Description

Band 3 is the major glycoprotein of the erythrocyte membrane. It mediates exchange of chloride and bicarbonate across the phospholipid bilayer and plays a central role in respiration of carbon dioxide. It is a 93,000-Da protein composed of 2 distinct domains that function independently. The 50,000-Da C-terminal polypeptide codes for the transmembrane domain that is involved in anion transport. The 43,000-Da cytoplasmic domain anchors the membrane cytoskeleton to the membrane through an ankyrin-binding site (band 2.1) and also contains binding sites for hemoglobin and several glycolytic enzymes. Proteins related to red cell band 3 have been identified in several types of nucleated somatic cells (review by Palumbo et al., 1986).

Clinical Features

Top most frequent phenotypes and symptoms related to Solute Carrier Family 4 (anion Exchanger), Member 1; Slc4a1

  • Growth delay
  • Anemia
  • Splenomegaly
  • Acidosis
  • Jaundice
  • Hemolytic anemia
  • Hyperbilirubinemia
  • Renal tubular acidosis
  • Reticulocytosis
  • Acanthocytosis

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Solute Carrier Family 4 (anion Exchanger), Member 1; Slc4a1 Is also known as erythrocyte membrane protein band 3, anion exchange protein 1, band 3 of red cell membrane, epb3, erythroid protein band 3, bnd3, empb3, ae1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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