Curated summary · agent-written · kb/genes/curated/hgnc_20278.md

All 14 claims checked against the KB draft

NUBPL across dismech

NUBPL (NUBP iron-sulfur cluster assembly factor, mitochondrial) is named by 1 disorder entry.

Normal function

ai-gene-review gives NUBPL's core molecular functions as 4 iron, 4 sulfur cluster binding; and ATP-dependent FeS chaperone activity, acting in iron-sulfur cluster assembly; and mitochondrial respiratory chain complex I assembly. The upstream review describes NUBPL as a complex I assembly factor that binds and delivers [4Fe-4S] clusters to the peripheral arm, not a subunit of the mature enzyme.

Disease record

The one entry naming NUBPL, Mitochondrial Complex I Deficiency Nuclear Type 21, types it as causative and records the variants as germline. The gene sits on the node Impaired Iron-Sulfur Cluster Delivery to the Complex I Peripheral Arm, and nodes naming it conform to the module complex_i_deficiency.

The KB's NUBPL nodes and the ai-gene-review core functions share the process iron-sulfur cluster assembly by exact GO identifier.

ClinGen

ClinGen classifies NUBPL for 2 diseases. The one with no dismech entry is mitochondrial disease, and the dismech entries matched to a ClinGen disease for NUBPL that do not type the gene are Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1; and Leigh Syndrome.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (Q8TB37, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Mitochondrial Complex I Deficiency Nuclear Type 21	causative germline	mechanism: Impaired Iron-Sulfur Cluster Delivery to the Complex I Peripheral Arm; NUBPL Loss of Function

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Leigh syndrome MONDO:0009723	AR	Moderate 2020-03-19	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named
mitochondrial disease MONDO:0044970	AR	Definitive 2024-09-19	no dismech entry

Mechanism modules · computed from kb/

complex_i_deficiency via Mitochondrial Complex I Deficiency Nuclear Type 21