centrosomal protein of 57 kDa isoform X1 [Homo sapiens]

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Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.

Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum. [Clin Genet. 2023]
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Langeh N, Saluja S, Ethayathulla AS, Jana M, Shukla R, Palanichamy JK, Gupta N. Clin Genet. 2023 Apr; 103(4):478-483. Epub 2023 Jan 23.
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. [Eur J Med Genet. 2021]
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, et al. Eur J Med Genet. 2021 Nov; 64(11):104338. Epub 2021 Sep 7.
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. [Eur J Med Genet. 2020]
Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.
Dery T, Chatron N, Alqahtani A, Pugeat M, Till M, Edery P, Sanlaville D, Schluth-Bolard C, Nicolino M, Lesca G, et al. Eur J Med Genet. 2020 Nov; 63(11):104044. Epub 2020 Aug 28.

RefSeq genomic sequence
See the genomic reference sequence for the CEP57 gene (NG_029829.1).
RefSeq mRNA
See reference mRNA sequence for the CEP57 gene (XM_054370613.1).
RefSeq protein isoforms
See 16 reference sequence protein isoforms for the CEP57 gene.

LL2in30061 Hematopoietic Stem Cell Subtracted Library Mus musculus cDNA 5' simil...
LL2in30061 Hematopoietic Stem Cell Subtracted Library Mus musculus cDNA 5' similar to human zinc finger ZXDA protein, mRNA sequence
gi|23605485|gnl|dbEST|14157209|gb|B 66.1|

Nucleotide
CJ066686 RIKEN full-length enriched mouse cDNA library, C57BL/6J eyeball 0 day n...
CJ066686 RIKEN full-length enriched mouse cDNA library, C57BL/6J eyeball 0 day neonate Mus musculus cDNA clone E130113M19 5', mRNA sequence
gi|76147809|gnl|dbEST|31856503|dbj| 686.1|

Nucleotide

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Protein