ZFYVE27

Chr 10

zinc finger FYVE-type containing 27

Also known as: PROTRUDIN, SPG33

This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]

OMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
hereditary spastic paraplegia 33 · ADDisputedevidence questions this relationship
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.11
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.11LOEUF
pLI 0.000
Z-score 1.16
OE 0.74 (0.511.11)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.82Z-score
OE missense 0.85 (0.760.96)
210 obs / 246.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.511.11)
00.351.4
Missense OE?0.85 (0.760.96)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 17 / 23.0Missense obs/exp: 210 / 246.1Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZFYVE27 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →