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AMER1 APC membrane recruitment protein 1

Also known as: WTX; OSCS; FAM123B

Summary

The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Osteopathia striata with cranial sclerosis
MedGen: C0432268OMIM: 300373GeneReviews: Not available
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Genomic context

Location:
Xq11.2
Sequence:
Chromosome: X; NC_000023.11 (64185117..64205744, complement)
Total number of exons:
2

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