RecName: Full=Protein Shroom3; AltName: Full=Shroom-related protein; S - Protein

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A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate. [Clin Genet. 2020]
A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate.
Deshwar AR, Martin N, Shannon P, Chitayat D. Clin Genet. 2020 Sep; 98(3):299-302. Epub 2020 Aug 3.
Loss-of-function de novo mutations play an important role in severe human neural tube defects. [J Med Genet. 2015]
Loss-of-function de novo mutations play an important role in severe human neural tube defects.
Lemay P, Guyot MC, Tremblay É, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, De Marco P, Merello E, Massicotte C, et al. J Med Genet. 2015 Jul; 52(7):493-7. Epub 2015 Mar 24.
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. [Genome Biol. 2011]
SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. Genome Biol. 2011 Sep 21; 12(9):R91. Epub 2011 Sep 21.

RefSeq protein
See the reference protein sequence for protein Shroom3 (NP_065910.3).

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Q8TF72 [Domain Mapping of Disease Mut...]
Q8TF72
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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