MYL11
entrez
29895
canonical
uniprot
Q96A32
canonical
ensembl
ENSG00000180209
resolver
ensp
ENSP00000325239
resolver
ensp
ENSP00000549586
resolver
ensp
ENSP00000549587
resolver
ensp
ENSP00000549588
resolver
ensp
ENSP00000549589
resolver
ensp
ENSP00000619493
resolver
enst
ENST00000322861
resolver
enst
ENST00000879527
resolver
enst
ENST00000879528
resolver
enst
ENST00000879529
resolver
enst
ENST00000879530
resolver
enst
ENST00000949434
resolver
genesymbol
MYL11
resolver
genesymbol_syn
HSRLC
resolver
genesymbol_syn
MYLPF
resolver
hgnc
HGNC:29824
resolver
uniprot
A0A024QZG6
resolver
uniprot
B2RA83
resolver
uniprot
Q14843
resolver
uniprot
Q6IB41
resolver
uniprot_entry
MYL11_HUMAN
resolver
uniprot_sec
A0A024QZG6
resolver
uniprot_sec
B2RA83
resolver
uniprot_sec
Q14843
resolver
uniprot_sec
Q6IB41
resolver
amino_acid_sequence
MAPKRAKRRTVEGGSSSVFSMFDQTQIQEFKEAFTVIDQNRDGIIDKEDLRDTFAAMGRLNVKNEELDAMMKEASGPINFTVFLTMFGEKLKGADPEDVITGAFKVLDPEGKGTIKKKFLEELLTTQCDRFSQEEIKNMWAAFPPDVGGNVDYKNICYVITHGDAKDQE
uniprot
proteins
disease_involvement
DISEASE: Arthrogryposis, distal, 1C (DA1C) [MIM:619110]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA1C patients show multiple congenital contractures, scoliosis, short stature, and segmental amyoplasia. DA1C inheritance can be autosomal recessive or autosomal dominant. {ECO:0000269|PubMed:32707087}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Myosin regulatory subunit that plays an essential role to maintain muscle integrity during early development (By similarity). Plays a role in muscle contraction (By similarity). {ECO:0000250|UniProtKB:O93409}.
uniprot
proteins
mass_dalton
19015
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14756420
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
32707087
uniprot
proteins
sequence_length
169
uniprot
proteins