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Details of TMCO1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| TMCO1 | TMCC4 | Q9UM00 | TMCO1_HUMAN | 54499
| ENSG00000143183
| Transmembrane and coiled-coil domain-containing protein 1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome (CFSMR) [MIM:614132]: A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614132 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
|
