UHMK1 Chromosome 1

U2AF homology motif kinase 1

1 variant 1 Health Risk

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What This Gene Does

The gene encodes a serine/threonine protein kinase that promotes cell cycle progression through G1 by phosphorylation of the cyclin-dependent kinase inhibitor 1B (p27Kip1), which causes nuclear export and degradation. The encoded protein is also thought to function in the adult nervous system and the gene has been associated with schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Gene Info

Gene Group

RNA binding motif containing

Locus Type

gene with protein product

Location

1q23.3

Ensembl

ENSG00000152332

Associated Conditions (1)

Cerebral visual impairment and intellectual disability

Key Variants

RS869312863

Likely pathogenic

Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS869312863	Health Risk	Likely pathogenic	Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability