MYO5A
Encyclopedia
Myosin-Va is a protein
that in humans is encoded by the MYO5A gene
.
with DYNLL1
, RAB27A
and DYNLL2
.
type 1, also known as Elejalde syndrome
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the MYO5A gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Interactions
MYO5A has been shown to interactProtein-protein interaction
Protein–protein interactions occur when two or more proteins bind together, often to carry out their biological function. Many of the most important molecular processes in the cell such as DNA replication are carried out by large molecular machines that are built from a large number of protein...
with DYNLL1
DYNLL1
Dynein light chain 1, cytoplasmic is a protein that in humans is encoded by the DYNLL1 gene.-Interactions:DYNLL1 has been shown to interact with DLGAP1, MYO5A, DYNC1I1, BCL2L11, NRF1, IκBα, PAK1, DLG4 and TP53BP1.-Further reading:...
, RAB27A
RAB27A
Ras-related protein Rab-27A is a protein that in humans is encoded by the RAB27A gene.-Interactions:RAB27A has been shown to interact with EXPH5, SYTL1, MYO5A, RPH3AL and SYTL2.-Further reading:...
and DYNLL2
DYNLL2
Dynein light chain 2, cytoplasmic is a protein that in humans is encoded by the DYNLL2 gene.-Interactions:DYNLL2 has been shown to interact with DLG4, DLGAP1, MYO5A and BMF.-Further reading:...
.
Clinical significance
Defects are associated with Griscelli syndromeGriscelli syndrome
Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency, that usually causes death by early childhood.-Types:...
type 1, also known as Elejalde syndrome
Elejalde syndrome
Elejalde syndrome is a rare autosomal recessive syndrome consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen....
.