Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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B lymphoid tyrosine kinase

The tyrosin kinase encoded by the BLK gene though not receptor-bound regulates several transcription factors in pancreatic beta cells. Probably in that capacity, mutations cause MODY diabetes type 11. Also the gene is involves in Lupus erythematodes susceptibility and known as a member of the src family of proto-oncogenes.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

MODY11 diabetes
BLK

References:

1.

Hom G et al. (2008) Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

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2.

Borowiec M et al. (2009) Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.

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3.

Appel S et al. (2002) Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.

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4.

Saijo K et al. (2003) Essential role of Src-family protein tyrosine kinases in NF-kappaB activation during B cell development.

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5.

Kozak CA et al. (1991) Genetic mapping of the gene for a novel tyrosine kinase, Blk, to mouse chromosome 14.

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6.

Zhang H et al. (2012) The Blk pathway functions as a tumor suppressor in chronic myeloid leukemia stem cells.

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7.

Dymecki SM et al. (1990) Specific expression of a tyrosine kinase gene, blk, in B lymphoid cells.

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8.

Islam KB et al. (1995) Molecular cloning, characterization, and chromosomal localization of a human lymphoid tyrosine kinase related to murine Blk.

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9.

Drebin JA et al. (1995) Molecular cloning and chromosomal localization of the human homologue of a B-lymphocyte specific protein tyrosine kinase (blk).

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10.

Orphanet article

Orphanet ID 227384 external link
11.

NCBI article

NCBI 640 external link
12.

OMIM.ORG article

Omim 191305 external link
13.

Wikipedia article

Wikipedia EN (Tyrosine-protein_kinase_BLK) external link
Update: Aug. 14, 2020
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