MYOZ1 (myozenin 1)

2014-11-01  

Identity

HGNC
LOCATION
10q22.2
LOCUSID
ALIAS
CS-2,FATZ,MYOZ
FUSION GENES

Other Information

Locus ID:

NCBI: 58529
MIM: 605603
HGNC: 13752
Ensembl: ENSG00000177791

Variants:

dbSNP: 58529
ClinVar: 58529
TCGA: ENSG00000177791
COSMIC: MYOZ1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177791ENST00000359322Q9NP98

Expression (GTEx)

0
500
1000
1500
2000

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
160769042005The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.31
241773732014Gene expression and genetic variation in human atria.17
172548212007Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy.8
194729182008Candidate-gene testing for orphan limb-girdle muscular dystrophies.4
194729182008Candidate-gene testing for orphan limb-girdle muscular dystrophies.4
174347792007Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.0

Citation

Dessen P

MYOZ1 (myozenin 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70637/myoz1