KYNU

Chr 2

kynureninase

Also known as: KYNUU, VCRL2

Kynureninase is a pyridoxal-5'-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHydroxykynureninuria
UniProtVertebral, cardiac, renal, and limb defects syndrome 2

Clinical highlights

Gene-disease validity (ClinGen)
vertebral, cardiac, renal, and limb defects syndrome 2 · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
62
Pubs (1 yr)
P/LP submissions
P/LP missense
1.35
LOEUF
DN
Mechanism· predicted
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GeneReview available — KYNU
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.35LOEUF
pLI 0.000
Z-score 0.09
OE 0.98 (0.721.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.41Z-score
OE missense 1.07 (0.971.19)
267 obs / 248.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.98 (0.721.35)
00.351.4
Missense OE?1.07 (0.971.19)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 27 / 27.5Missense obs/exp: 267 / 248.7Syn Z: 0.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KYNU · protein map & ClinVar variants

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