RecName: Full=Mediator of RNA polymerase II transcription subunit 12-l - Protein

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Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. [Genet Med. 2019]
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, et al. Genet Med. 2019 Dec; 21(12):2713-2722. Epub 2019 Jun 3.
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. [Am J Hum Genet. 2001]
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, et al. Am J Hum Genet. 2001 Oct; 69(4):673-84. Epub 2001 Aug 27.
Functional screening of FxxLF-like peptide motifs identifies SMARCD1/BAF60a as an androgen receptor cofactor that modulates TMPRSS2 expression. [Mol Endocrinol. 2009]
Functional screening of FxxLF-like peptide motifs identifies SMARCD1/BAF60a as an androgen receptor cofactor that modulates TMPRSS2 expression.
van de Wijngaart DJ, Dubbink HJ, Molier M, de Vos C, Trapman J, Jenster G. Mol Endocrinol. 2009 Nov; 23(11):1776-86. Epub 2009 Sep 17.

RefSeq genomic sequence
See the genomic reference sequence for the MED12L gene (NG_021244.2).
RefSeq protein isoforms
See 46 reference sequence protein isoforms for the MED12L gene.

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Q86YW9 [Domain Mapping of Disease Mut...]
Q86YW9
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Mediator of RNA polymerase II transcription subunit 12-like protei...
RecName: Full=Mediator of RNA polymerase II transcription subunit 12-like protein; AltName: Full=Mediator complex subunit 12-like protein; AltName: Full=Thyroid hormone receptor-associated-like protein; AltName: Full=Trinucleotide repeat-containing gene 11 protein-like
gi|166232934|sp|Q86YW9.2|MD12L_HUMA

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