SMPX

Chr X

small muscle protein X-linked

Also known as: Chisel, Csl, DFN6, DFNX4, MPD7

NCBI Gene: 23676 ENSG00000091482 UniProt: Q9UHP9

The protein encoded by this gene is involved in coordinating muscle cell structural and functional states during growth, adaptation, and repair, and may help maintain inner ear cells under mechanical stress. Mutations cause X-linked deafness-4 and adult-onset distal myopathy, indicating involvement of both auditory and skeletal muscle systems. The gene shows X-linked inheritance with both dominant and recessive patterns reported.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, X-linked, 4

UniProtMyopathy, distal, 7, adult-onset, X-linked

Clinical highlights

Gene-disease validity (ClinGen)

nonsyndromic genetic hearing loss · XLDefinitivesufficient evidence for diagnostic panels

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)

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P/LP submissions

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P/LP missense

0.95

LOEUF

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Mechanism

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GeneReview available — SMPX