zinc finger protein 407 isoform X3 [Homo sapiens]

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Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism. [J Hum Genet. 2020]
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
Zahra Q, Çakmak Ç, Koprulu M, Shuaib M, Sobreira N, Kalsner L, Sobreira J, Guillen Sacoto MJ, Malik S, Tolun A. J Hum Genet. 2020 Dec; 65(12):1115-1123. Epub 2020 Jul 31.
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. [Orphanet J Rare Dis. 2014]
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.
Kambouris M, Maroun RC, Ben-Omran T, Al-Sarraj Y, Errafii K, Ali R, Boulos H, Curmi PA, El-Shanti H. Orphanet J Rare Dis. 2014 Jun 7; 9:80. Epub 2014 Jun 7.
Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism. [Biochim Biophys Acta. 2013]
Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism.
Ren CM, Liang Y, Wei F, Zhang YN, Zhong SQ, Gu H, Dong XS, Huang YY, Ke H, Son XM, et al. Biochim Biophys Acta. 2013 Mar; 1832(3):431-8. Epub 2012 Nov 26.

RefSeq genomic sequence
See the genomic reference sequence for the ZNF407 gene (NG_013216.2).
RefSeq mRNA
See reference mRNA sequence for the ZNF407 gene (XM_054318803.1).
RefSeq protein isoforms
See 12 reference sequence protein isoforms for the ZNF407 gene.

SATB1[gene] (158)
ClinVar
PREDICTED: Homo sapiens ALG13 UDP-N-acetylglucosaminyltransferase subunit (ALG13...
PREDICTED: Homo sapiens ALG13 UDP-N-acetylglucosaminyltransferase subunit (ALG13), transcript variant X1, mRNA
gi|2462631131|ref|XM_054327878.1|

Nucleotide
UDP-N-acetylglucosamine transferase subunit ALG13 isoform X9 [Homo sapiens]
UDP-N-acetylglucosamine transferase subunit ALG13 isoform X9 [Homo sapiens]
gi|768038134|ref|XP_006724761.2|

Protein
UDP-N-acetylglucosamine transferase subunit ALG13 isoform X1 [Homo sapiens]
UDP-N-acetylglucosamine transferase subunit ALG13 isoform X1 [Homo sapiens]
gi|2462631132|ref|XP_054183853.1|

Protein

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Protein