ACTA_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
ACTA2
, ACTSA, ACTVS
, GIG46
Protein names and data:
ACTA_HUMAN
, Actin, aortic smooth muscle
, Alpha-actin-2; Cell growth-inhibiting gene 46 protein; Flags: Precursor
Lenght: 377 a.a.
Mass: 42009 Da
fasta formatted sequence
Function:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Disease:
( OMIM:
102620
611788
613834
614042
)
Note=ACTA2 mutations predispose patients to a variety of diffuse and diverse vascular diseases, premature onset coronary artery disease (CAD), premature ischemic strokes and Moyamoya disease. Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. Note=The disease is caused by mutations affecting the gene represented in this entry. Moyamoya disease 5 (MYMY5) [MIM:614042]: A progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. Note=The disease is caused by mutations affecting the gene represented in this entry. Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]: A syndrome characterized by dysfunction of smooth muscle cells throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm, cytoskeleton.
Genetic variants
39 - 39
R -> H (in AAT6). VAR_062577
117 - 117
N -> T (in AAT6). VAR_045915
118 - 118
R -> Q (in AAT6). VAR_045916
135 - 135
Y -> H (in AAT6). VAR_045917
145 - 145
Y -> C (in AAT6). VAR_062578
149 - 149
R -> C (in AAT6). VAR_045918
154 - 154
V -> A (in AAT6). VAR_045919
179 - 179
R -> H (in MYMY5 and MSMDYS; disease phenotype include smooth muscle cells dysfunction in organs throughout the body with decreased contractile function in the iris, bladder and gastrointestinal tract). VAR_064516
185 - 185
R -> Q (in AAT6). VAR_062579
196 - 196
T -> S (in dbSNP:rs1803028). VAR_011944
1803028
212 - 212
R -> Q (in AAT6). VAR_062580
258 - 258
R -> C (in AAT6). VAR_045920
258 - 258
R -> H (in AAT6). VAR_045921
292 - 292
R -> G (in AAT6). VAR_045922
320 - 320
T -> A (in dbSNP:rs1803027). VAR_011945
1803027
326 - 326
T -> N (in AAT6). VAR_062581
353 - 353
T -> N (in AAT6). VAR_045923
373 - 373
H -> P (in dbSNP:rs1062398). VAR_011946
1062398
Database cross-references
UniProt:
P62736
Ensembl:
ENST00000224784
Ensembl:
ENST00000458208
MIM:
102620
MIM:
611788
MIM:
613834
MIM:
614042
neXtProt:
NX_P62736
Antibodypedia:
P62736
(may not find the protein thus also not any antibody)
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