S.NO | Uniprot ID | Protein Name | Sequence Length | BPTI/Kunitz inhibitor Repeats region | Disease |
1 | O43291 | Kunitz-type protease inhibitor 2 | 252 | "DISEASE: Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies (DIAR3) [MIM:270420]: A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes. Note=The disease is caused by mutations affecting the gene represented in this entry". | |