C12orf57
entrez
113246
canonical
uniprot
Q99622
canonical
ensembl
ENSG00000111678
resolver
ensp
ENSP00000229281
resolver
ensp
ENSP00000440602
resolver
ensp
ENSP00000440937
resolver
ensp
ENSP00000475635
resolver
ensp
ENSP00000522339
resolver
enst
ENST00000229281
resolver
enst
ENST00000537087
resolver
enst
ENST00000540506
resolver
enst
ENST00000545581
resolver
enst
ENST00000852280
resolver
genesymbol
C12orf57
resolver
genesymbol_syn
C10
resolver
hgnc
HGNC:29521
resolver
uniprot
B2R4Q6
resolver
uniprot
F5GXW5
resolver
uniprot
U3KQ85
resolver
uniprot_entry
C10_HUMAN
resolver
uniprot_entry
F5GXW5_HUMAN
resolver
uniprot_entry
U3KQ85_HUMAN
resolver
uniprot_sec
B2R4Q6
resolver
amino_acid_sequence
MASASTQPAALSAEQAKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLKFARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS
uniprot
proteins
disease_involvement
DISEASE: Temtamy syndrome (TEMTYS) [MIM:218340]: An autosomal recessive syndrome characterized by intellectual disability, variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. {ECO:0000269|PubMed:23453665, ECO:0000269|PubMed:23453666, ECO:0000269|PubMed:23633300}. Note=The disease is caused by variants affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed.
uniprot
proteins
function
FUNCTION: In brain, may be required for corpus callosum development. {ECO:0000269|PubMed:23453666}.
uniprot
proteins
mass_dalton
13178
uniprot
proteins
protein_family
UPF0456 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23453665
uniprot
proteins
pubmed
23453666
uniprot
proteins
pubmed
23633300
uniprot
proteins
pubmed
9074930
uniprot
proteins
sequence_length
126
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23453666}.
uniprot
proteins