ZFYVE16 Chromosome 5

Zinc finger FYVE-type containing 16

1 variant 1 Health Risk

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What This Gene Does

This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Gene Info

Gene Group

"Zinc fingers FYVE-type|Protein phosphatase 1 regulatory subunits"

Locus Type

gene with protein product

Location

5q14.1

Ensembl

ENSG00000039319

Associated Conditions (1)

Cerebral arteriovenous malformation

Key Variants

RS1554047435

Likely pathogenic

Cerebral arteriovenous malformation, Cerebral arteriovenous malformation

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1554047435	Health Risk	Likely pathogenic	Cerebral arteriovenous malformation, Cerebral arteriovenous malformation