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EFTUD2

EFTUD2

Protein-coding gene in the species Homo sapiens

a protein that in humans is encoded by the EFTUD2 gene. Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly

EFTUD2

Mandibulofacial dysostosis-microcephaly syndrome

Medical condition

This condition is caused by inherited autosomal recessive mutations in the EFTUD2 gene. These mutations can either be missense, splice-site, or the result

Mandibulofacial dysostosis-microcephaly syndrome

Mandibulofacial_dysostosis-microcephaly_syndrome

PRPF8

Protein-coding gene in the species Homo sapiens

dominant retinitis pigmentosa. PRPF8 has been shown to interact with WDR57 and EFTUD2. ENSG00000174231 GRCh38: Ensembl release 89: ENSG00000274442, ENSG00000174231

PRPF8

P-bodies

Biomolecular condensates of mRNA and RNA binding proteins found in eukaryotic cells

SBSN No BAZ1B BAZ1B No MYO1C MYO1C No EIF4A3 IF4A3 No SERPINB12 SPB12 No EFTUD2 U5S1 No RBM15B RB15B No AGO2 AGO2 Yes MYH10 MYH10 No DDX10 DDX10 No FABP5

P-bodies

WDR57

Protein-coding gene in the species Homo sapiens

from pre-messenger RNAs. WDR57 has been shown to interact with PRPF8 and EFTUD2. GRCh38: Ensembl release 89: ENSG00000060688 – Ensembl, May 2017 GRCm38:

WDR57

List of human protein-coding genes 3

HGNC:28970; Q14156 4773 EFR3B HGNC:29155; Q9Y2G0 4774 EFS HGNC:16898; O43281 4775 EFTUD2 HGNC:30858; Q15029 4776 EGF HGNC:3229; P01133 4777 EGFL6 HGNC:3235; Q8IUX8

List of human protein-coding genes 3

List_of_human_protein-coding_genes_3