PDZRN3 Chromosome 3

PDZ domain containing ring finger 3

3 variants 3 Health Risk

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What This Gene Does

This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Gene Info

Gene Group

"Ring finger proteins|PDZ domain containing|Zinc fingers TRAF-type"

Locus Type

gene with protein product

Location

3p13

Ensembl

ENSG00000121440

Associated Conditions (2)

Short stature

Childhood-onset schizophrenia

Key Variants

RS747762087

Likely pathogenic

Short stature, Short stature

Health Risk

RS748809996

Likely pathogenic

Childhood-onset schizophrenia, Childhood-onset schizophrenia

Health Risk

RS778037798

Likely pathogenic

Short stature, Short stature

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS747762087	Health Risk	Likely pathogenic	Short stature, Short stature
RS748809996	Health Risk	Likely pathogenic	Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS778037798	Health Risk	Likely pathogenic	Short stature, Short stature