VPS26A

Chr 10

VPS26 retromer complex component A

Also known as: HB58, Hbeta58, PEP8A, VPS26

This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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.
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
0.48
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.614
Z-score 3.01
OE 0.19 (0.080.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.56Z-score
OE missense 0.66 (0.560.77)
108 obs / 164.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.080.48)
00.351.4
Missense OE?0.66 (0.560.77)
00.61.4
Synonymous OE?0.73
01.21.6
LoF obs/exp: 3 / 16.0Missense obs/exp: 108 / 164.2Syn Z: 1.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

VPS26A · 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.

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