SMPX
entrez
23676
canonical
uniprot
Q9UHP9
canonical
ensembl
ENSG00000091482
resolver
ensp
ENSP00000368808
resolver
ensp
ENSP00000493671
resolver
ensp
ENSP00000495170
resolver
ensp
ENSP00000537894
resolver
ensp
ENSP00000537895
resolver
ensp
ENSP00000537896
resolver
ensp
ENSP00000537897
resolver
ensp
ENSP00000611613
resolver
enst
ENST00000379494
resolver
enst
ENST00000494525
resolver
enst
ENST00000646008
resolver
enst
ENST00000867835
resolver
enst
ENST00000867836
resolver
enst
ENST00000867837
resolver
enst
ENST00000867838
resolver
enst
ENST00000941554
resolver
genesymbol
SMPX
resolver
genesymbol_syn
SRMX
resolver
hgnc
HGNC:11122
resolver
uniprot
B1AWX2
resolver
uniprot_entry
SMPX_HUMAN
resolver
uniprot_sec
B1AWX2
resolver
amino_acid_sequence
MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEGVPPTSDEEKKPIPGAKKLPGPAVNLSEIQNIKSELKYVPKAEQ
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:21549336, ECO:0000269|PubMed:21549342, ECO:0000269|PubMed:22911656}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, distal, 7, adult-onset, X-linked (MPD7) [MIM:301075]: An X-linked recessive, slowly progressive muscular disorder characterized by adult onset of distal muscle weakness predominantly, affecting the lower limbs. Some patients also have proximal muscle weakness. Histopathological and electron microscopic analysis of patient muscle biopsies reveals myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. {ECO:0000269|PubMed:33974137}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
9559
uniprot
proteins
protein_family
SMPX family
uniprot
proteins
pubmed
10598820
uniprot
proteins
pubmed
11401441
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21549336
uniprot
proteins
pubmed
21549342
uniprot
proteins
pubmed
22911656
uniprot
proteins
pubmed
33974137
uniprot
proteins
sequence_length
88
uniprot
proteins