GEMIN4

Chr 17AR

gem nuclear organelle associated protein 4

Also known as: HC56, HCAP1, HHRF-1, NEDMCR, p97

NCBI Gene: 50628 ENSG00000179409 UniProt: P57678 OMIM: 606969

The GEMIN4 protein is part of the SMN complex that catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), which are essential building blocks of the spliceosome required for pre-mRNA splicing. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities. The gene is extremely intolerant to loss-of-function variants (pLI near 1), indicating that heterozygous loss alone would be detrimental, consistent with the recessive inheritance pattern where complete loss of function requires variants in both alleles.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.011 OMIM phenotype

Clinical Summary— GEMIN4

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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