Homo sapiens PR/SET domain 13 (PRDM13), mRNA

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Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea. [Mol Vis. 2024]
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.
Seo Y, Joo K, Lee J, Diaz A, Jang S, Cherry TJ, Bujakowska KM, Han J, Woo SJ, Small KW. Mol Vis. 2024; 30:58-66. Epub 2024 Feb 19.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. [Am J Hum Genet. 2022]
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerrière A, et al. Am J Hum Genet. 2022 May 5; 109(5):909-927. Epub 2022 Apr 6.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia. [J Clin Invest. 2021]
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
Whittaker DE, Oleari R, Gregory LC, Le Quesne-Stabej P, Williams HJ, GOSgene, Torpiano JG, Formosa N, Cachia MJ, Field D, et al. J Clin Invest. 2021 Dec 15; 131(24).

RefSeq protein product
See the reference protein sequence for PR domain zinc finger protein 13 (NP_067633.2).

Protein
Protein sequence from Nucleotide coding region
PubMed
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Taxonomy
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Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
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CCDS
Link to Consensus CDS
Components (Core)
Links to Core components
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Gene
Link to related Genes
OMIM
OMIM records associated with Nucleotide sequence
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
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Homo sapiens PR/SET domain 13 (PRDM13), mRNA
Homo sapiens PR/SET domain 13 (PRDM13), mRNA
gi|1777535661|ref|NM_021620.4|

Nucleotide

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Nucleotide