RecName: Full=Ceramide synthase 3; Short=CerS3; AltName: Full=Dihydroc - Protein

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A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis. [Congenit Anom (Kyoto). 2023]
A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.
Jan H, Wasif N, Naqvi SK, Ullah I, Ahmad W. Congenit Anom (Kyoto). 2023 Jul; 63(4):127-128. Epub 2023 May 1.
Ceramide synthase 3 affects invasion and metastasis of hepatocellular carcinoma via the SMAD6 gene. [Zhong Nan Da Xue Xue Bao Yi Xu...]
Ceramide synthase 3 affects invasion and metastasis of hepatocellular carcinoma via the SMAD6 gene.
Cai J, Liu Y, Li Q, Wen Z, Li Y, Chen X. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 May 28; 47(5):588-599.
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. [Am J Med Genet A. 2020]
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD.
Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA. Am J Med Genet A. 2020 Oct; 182(10):2442-2449. Epub 2020 Aug 20.

RefSeq genomic sequence
See the genomic reference sequence for the CERS3 gene (NG_042826.1).
RefSeq protein isoforms
See 14 reference sequence protein isoforms for the CERS3 gene.

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Q8IU89 [Domain Mapping of Disease Mut...]
Q8IU89
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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PANTHER Classification System
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RecName: Full=Ceramide synthase 3; Short=CerS3; AltName: Full=Dihydroceramide sy...
RecName: Full=Ceramide synthase 3; Short=CerS3; AltName: Full=Dihydroceramide synthase 3; AltName: Full=LAG1 longevity assurance homolog 3; AltName: Full=Sphingosine N-acyltransferase CERS3; AltName: Full=Ultra-long-chain ceramide synthase CERS3; AltName: Full=Very-long-chain ceramide synthase CERS3
gi|322510043|sp|Q8IU89.2|CERS3_HUMA

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