SH2B-Adapter-Protein 1
Das SH2B1-Gen kodiert ein regulierendes Protein welches die Aktivität verschiedenener Kinase beeinflusst. Solche Beeinflussungen wurden insbesondere bei der intrazellulären Signaltransduktion des Wachstumshormons und der Regulation der Insulinsekretion gesehen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nagase T et al. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
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2. |
Rui L et al. (1997) Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling.
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3. |
Nelms K et al. (1999) Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain.
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4. |
Yousaf N et al. (2001) Four PSM/SH2-B alternative splice variants and their differential roles in mitogenesis.
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5. |
Kong M et al. (2002) Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation.
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6. |
Ohtsuka S et al. (2002) SH2-B is required for both male and female reproduction.
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7. |
Duan C et al. (2004) Disruption of the SH2-B gene causes age-dependent insulin resistance and glucose intolerance.
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8. |
Ren D et al. (2007) Neuronal SH2B1 is essential for controlling energy and glucose homeostasis.
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9. |
Carter-Su C et al. (2016) Growth hormone signaling pathways.
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10. |
Blandino-Rosano M et al. (2016) 4E-BP2/SH2B1/IRS2 Are Part of a Novel Feedback Loop That Controls β-Cell Mass.
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11. |
Lange LA et al. (2016) Evidence for Association between SH2B1 Gene Variants and Glycated Hemoglobin in Nondiabetic European American Young Adults: The Add Health Study.
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12. |
Delacrétaz A et al. (2017) Association of variants in SH2B1 and RABEP1 with worsening of low-density lipoprotein and glucose parameters in patients treated with psychotropic drugs.
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13. |
OMIM.ORG article
Omim 608937
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14. |
Orphanet article
Orphanet ID 293315
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15. |
NCBI article
NCBI 25970
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Update: 14. August 2020