InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMPX

Summary

InnateDB Protein

IDBP-51364.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMPX

Protein Name

small muscle protein, X-linked

Synonyms

DFN6; DFNX4;

Species

Homo sapiens

Ensembl Protein

ENSP00000368808

InnateDB Gene

IDBG-51362 (SMPX)

Protein Structure

UniProt Annotation

Function

Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair. {ECO:0000250}.

Subcellular Localization

Disease Associations

Deafness, X-linked, 4 (DFNX4) [MIM:300066]: A non- syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. {ECO:0000269PubMed:21549336, ECO:0000269PubMed:21549342, ECO:0000269PubMed:22911656}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Preferentially and abundantly expressed in heart and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0006941