GREB1-like protein
The GREB1L gene encodes a protein which is probably involved in retinoid signaling pathway. Mutations cause dominant renal agenesis and hypodysplasia (RHD).
Genetests:
Related Diseases:
References:
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Sanna-Cherchi S et al. (2017) Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
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2. |
De Tomasi L et al. (2017) Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
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3. |
Orphanet article
Orphanet ID 470408
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4. |
NCBI article
NCBI 80000
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5. |
Wikipedia article
Wikipedia EN (GREB1L)
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Update: Aug. 14, 2020