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FLASH GENE

Symbol

MYLPF

contributors: mct/npt - updated : 15-09-2020

HGNC name	myosin light chain, phosphorylatable, fast skeletal muscle
HGNC id	29824

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16p11.2      Physical location : 30.386.122 - 30.389.310
Genatlas name	fast skeletal myosin light chain 2
Synonym name	myosin light chain 2
	myosin regulatory light chain 2, skeletal muscle isoform
	fast skeletal myosin light chain 2
	myosin, light chain 11, regulatory
Synonym symbol(s)	MRLC2, MGC13450, MLC2B, DKFZp779C0757, HUMMLC2B, MYL11

DNA

TYPE	functioning gene
STRUCTURE	7.06 kb     7 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013292 7 - 657 NP_037424 19 169 - 2015 26663899 NM_001324458 9 - 843 NP_001311387 - 169 - 2015 26663899 NM_001324459 9 - 847 NP_001311388 - 169 - 2015 26663899

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

two EF-hand calcium-binding domains

HOMOLOGY

interspecies	ortholog to murine Mylpf
	homolog to zebrafish mylpfa

Homologene

FAMILY

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic

basic FUNCTION	involved in muscle development
	is critically important for fast and slow skeletal muscle development
	MYLPF function is essential for muscle integrity during early development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

RHOA-mediated MYLPF regulates likely the actin organization for cytokinesis during oocyte maturation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice homozygous for a null mylpf allele lack all skeletal muscle at birth