Homo sapiens clone PTCHD1_iso-A_adult-A08 patched domain containing 1 - Nucleotide

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Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability. [Cells. 2024]
Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability.
Xie CTY, Pastore SF, Vincent JB, Frankland PW, Hamel PA. Cells. 2024 Jan 21; 13(2). Epub 2024 Jan 21.
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction. [HGG Adv. 2024]
CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.
Farley KO, Forbes CA, Shaw NC, Kuzminski E, Ward M, Baynam G, Lassmann T, Fear VS. HGG Adv. 2024 Jan 11; 5(1):100257. Epub 2023 Nov 24.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder. [Hum Mutat. 2021]
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Halewa J, Marouillat S, Dixneuf M, Thépault RA, Ung DC, Chatron N, Gérard B, Ghoumid J, Lesca G, Till M, et al. Hum Mutat. 2021 Jul; 42(7):848-861. Epub 2021 May 3.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the PTCHD1 gene.

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Nucleotide