Gene Symbol Report 
MYOT
| Approved Symbol |
MYOT |
|---|---|
| Approved Name |
myotilin |
| HGNC ID |
HGNC:12399 |
| Previous Symbols & Names |
LGMD1, LGMD1A, "limb-girdle muscular dystrophy 1A (autosomal dominant)", "titin immunoglobulin domain protein (myotilin)", TTID |
| Synonyms |
- |
| Locus Type |
gene with protein product |
| Chromosomal Location |
5q31.2 |
| GENE FAMILY |
Immunoglobulin superfamily / I-set domain containing |
|
|---|---|---|
| HOMOLOGS |
MGI:1889800 C Mouse Symbol: Myot RGD:1310569 D Rat Symbol: Myot HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:AF133820 EMBL-Bank DDBJ C RefSeq:NM_006790 C CCDS:CCDS4194.1 C Vega:OTTHUMG00000129154 C |
|
| GENE RESOURCES |
Entrez Gene:9499 C Ensembl:ENSG00000120729 C UCSC:uc003lbv.3 D Vega:OTTHUMG00000129154 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:Q9UBF9 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Myotilin (TTID) sequence variations C LSDB:Leiden Muscular Dystrophy pages C LRG:LRG_201 C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
