Homo sapiens MKS transition zone complex subunit 1 (MKS1), transcript - Nucleotide

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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities. [EBioMedicine. 2024]
Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, et al. EBioMedicine. 2024 Jan; 99:104940. Epub 2023 Dec 27.
The CRL4(DCAF6) E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration. [J Mol Med (Berl). 2023]
The CRL4(DCAF6) E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration.
Tseng C, Han Y, Lv Z, Song Q, Wang K, Shen H, Chen Z. J Mol Med (Berl). 2023 Feb; 101(1-2):171-181. Epub 2023 Jan 23.
Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. [EMBO J. 2022]
Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB.
Li FL, Wu Z, Gao YQ, Bowling FZ, Franklin JM, Hu C, Suhandynata RT, Frohman MA, Airola MV, Zhou H, et al. EMBO J. 2022 Sep 1; 41(17):e110698. Epub 2022 Jul 17.

RefSeq alternative splicing
See 20 reference mRNA sequence splice variants for the MKS1 gene.
RefSeq protein product
See the reference protein sequence for tectonic-like complex member MKS1 isoform 3 (NP_001308197.1).

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Protein sequence from Nucleotide coding region
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Nucleotide