ANKFY1

Chr 17

ankyrin repeat and FYVE domain containing 1

Also known as: ANKHZN, BTBD23, ZFYVE14

NCBI Gene: 51479 ENSG00000185722 UniProt: Q9P2R3

This protein regulates endosomal trafficking and fusion, serving as an effector of Rab5 and binding phosphatidylinositol 3-phosphate to control vesicle transport between early endosomes, the Golgi, and lysosomes. Mutations cause autosomal dominant neurodevelopmental disorder with impaired intellectual development, hypotonia, and behavioral abnormalities. The gene is highly constrained against loss-of-function mutations, indicating that ANKFY1 haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, UniProt

This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.31

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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