SMPX small muscle protein X-linked

Gene ID: 23676, updated on 17-Sep-2024
Gene type: protein coding
Also known as: Csl; DFN6; MPD7; DFNX4; Chisel

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hearing loss, X-linked 4 MedGen: C1848204OMIM: 300066GeneReviews: Genetic Hearing Loss Overview	See labs
Hereditary hearing loss and deafness MedGen: C0236038GeneReviews: Genetic Hearing Loss Overview	See labs
Myopathy, distal, 7, adult-onset, X-linked MedGen: C5676880OMIM: 301075GeneReviews: Not available	See labs

Genomic context

Location:: Xp22.12

Sequence:: Chromosome: X; NC_000023.11 (21705978..21758116, complement)

Total number of exons:: 10

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SMPX variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SMPX @ LOVD
Variation Viewer
Related Variants

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