The B-lymphocyte specific tyrosine kinase (BLK) gene is a member of the SRC family of proto-oncogenes that is preferentially expressed in B-lymphocyte and beta cells. The BLK protein promotes insulin biosynthesis and secretion by upregulating the transcription factors PDX1 and NKX6.1. Heterozygous mutations in this gene attenuate BLK expression and/or activity resulting in PDX1 and NKX6.1 deficiency, defective glucose-stimulated insulin secretion, and reduced beta cell mass. BLK-MODY manifests as diabetes mellitus with an overweight phenotype (PMID:33292863).
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