Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).
Tn polyagglutination syndrome
TNPS
A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders.
None
The disease is caused by variants affecting the gene represented in this entry.
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
AHUS8
An X-linked, atypical form of hemolytic uremic syndrome, characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. AHUS8 patients have short stature with short limbs, in addition to acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase, and schistocytes on peripheral blood smear. More variable features include immunodeficiency with recurrent infections, developmental delay, and dysmorphic features. The age at onset of renal symptoms is variable, ranging from infancy to the early twenties. Female carriers may be mildly affected.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.
COSMC, HSPC067, MSTP143, UNQ273/PRO310, C1GALT1C1, C1GALT1-specific chaperone 1, C38H2-like protein 1, Core 1 beta3-galactosyltransferase-specific molecular chaperone, C38H2-L1, C1Gal-T2, C1GalT2, Core 1 beta3-Gal-T2
Proteins
Immunology & Infectious Disease
36382Da
We found 2 products in 1 category
ab229831
ab68310