ISCA1

Chr 9AR

iron-sulfur cluster assembly 1

Also known as: HBLD2, ISA1, MMDS5, hIscA, hIscA1

NCBI Gene: 81689 ENSG00000135070 UniProt: Q9BUE6 OMIM: 611006

ISCA1 encodes a mitochondrial protein that functions in the maturation of 4Fe-4S iron-sulfur clusters, which are essential for electron transfer reactions in cellular metabolism. Mutations cause multiple mitochondrial dysfunctions syndrome 5, an autosomal recessive disorder affecting multiple organ systems due to impaired mitochondrial function. The gene has relatively low constraint scores (pLI 0.17, LOEUF 0.99), suggesting tolerance to loss-of-function variants in the general population.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Multiple mitochondrial dysfunctions syndrome 5MIM #617613

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)

—

P/LP submissions

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P/LP missense

0.99

LOEUF

Mechanism· predicted

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GeneReview available — ISCA1

Authoritative clinical overview · Recommended first read