RBCC Red Blood Cell Collection

MYLK2_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: MYLK2
Protein names and data: MYLK2_HUMAN , Myosin light chain kinase 2, skeletal/cardiac muscle; MLCK2; 2.7.11.18 Lenght: 596 a.a.
Mass: 64685 Da
fasta formatted sequence
Function: Implicated in the level of global muscle contraction and cardiac function. Phosphorylates a specific serine in the N- terminus of a myosin light chain.
Catalytic activity: ATP + [myosin light-chain] = ADP + [myosin light-chain] phosphate.
Disease: ( OMIM: 192600 606566 ) Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Note=Colocalizes with phosphorylated myosin light chain (RLCP) at filaments of the myofibrils.
Tissue specificity: Heart and skeletal muscles. Increased expression in the apical tissue compared to the interventricular septal tissue.

Genetic variants

87 - 87 A -> V (in CMH; dbSNP:rs121908107). VAR_014197 121908107
95 - 95 A -> E (in CMH; dbSNP:rs121908108). VAR_014198 121908108
117 - 117 A -> V (in a lung neuroendocrine carcinoma sample; somatic mutation). VAR_040860
142 - 142 G -> V (in dbSNP:rs56385445). VAR_040861 56385445
144 - 144 P -> A (in dbSNP:rs34396614). VAR_040862 34396614
324 - 324 K -> N (in dbSNP:rs34146416). VAR_040863 34146416

Database cross-references

UniProt: Q9H1R3
Ensembl: ENST00000375985
Ensembl: ENST00000375994
MIM: 192600
MIM: 606566
neXtProt: NX_Q9H1R3
Antibodypedia: Q9H1R3 (may not find the protein thus also not any antibody)
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