Literature summary extracted from

Adamia, S.; Reichert, A.A.; Kuppusamy, H.; Kriangkum, J.; Ghosh, A.; Hodges, J.J.; Pilarski, P.M.; Treon, S.P.; Mant, M.J.; Reiman, T.; Belch, A.R.; Pilarski, L.M.
Inherited and acquired variations in the hyaluronan synthase 1 (HAS1) gene may contribute to disease progression in multiple myeloma and Waldenstrom macroglobulinemia (2008), Blood, 112, 5111-5121.

Application

EC Number	Application	Comment	Organism
2.4.1.212	medicine	somatic HAS1 genetic variations occur in all hematopoietic cells tested, including normal CD34 hematopoietic progenitor cells and T cells, or as tumor-specific genretic variations restricted to malignant B and plasma cells. HAS1 genetic variations direct aberrant HAS1 intronic splicing. Nearly all newly identified inherited and somatic genetic variations in multiple myeloma and/or Waldenstrom macroglobulinemia are absent from B chronic lymphocytic leukemia, nonmalignant disease, and healthy donors	Homo sapiens

Organism

EC Number	Organism	UniProt	Comment	Textmining
2.4.1.212	Homo sapiens	Q92839	isoform HAS1; patients with multiple myeloma and Waldenstrom macroglobulinemia	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
2.4.1.212	B-cell	-	Homo sapiens	-
2.4.1.212	PBMC cell	CD34+	Homo sapiens	-
2.4.1.212	plasma cell	-	Homo sapiens	-
2.4.1.212	T-cell	-	Homo sapiens	-

Synonyms

EC Number	Synonyms	Comment	Organism
2.4.1.212	hyaluronan synthase 1	-	Homo sapiens

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Release 2023.1 (January 2023)