RecName: Full=Transcription factor Gibbin; AltName: Full=AT-hook DNA-b - Protein

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Xia-Gibbs Syndrome. [GeneReviews(®). 1993]
Xia-Gibbs Syndrome.
Chander V, Wangler M, Gibbs R, Murdock D. GeneReviews(®). 1993-2024. 2021 Dec 9
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1. [Eur J Med Genet. 2021]
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, et al. Eur J Med Genet. 2021 Sep; 64(9):104280. Epub 2021 Jul 3.
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. [Hum Mutat. 2021]
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, et al. Hum Mutat. 2021 May; 42(5):577-591. Epub 2021 Mar 6.

RefSeq genomic sequence
See the genomic reference sequence for the AHDC1 gene (NG_034158.1).
RefSeq protein isoforms
See 43 reference sequence protein isoforms for the AHDC1 gene.

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Q5TGY3 [Domain Mapping of Disease Mut...]
Q5TGY3
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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