HSPB8_HUMAN
Source:
PM19886704
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
HSPB8
, CRYAC, E2IG1, HSP22
, PP1629
Protein names and data:
HSPB8_HUMAN
, Heat shock protein beta-8; HspB8
, Alpha-crystallin C chain; E2-induced gene 1 protein; Protein kinase H11; Small stress protein-like protein HSP22
Lenght: 196 a.a.
Mass: 21604 Da
fasta formatted sequence
Function:
Displays temperature-dependent chaperone activity.
Disease:
( OMIM:
158590
608014
608673
)
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. Note=The disease is caused by mutations affecting the gene represented in this entry. Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shock.
Tissue specificity:
Predominantly expressed in skeletal muscle and heart.
Genetic variants
67 - 67
G -> S (in a glioblastoma multiforme sample; somatic mutation). VAR_042244
78 - 78
R -> M (in dbSNP:rs55826713). VAR_042245
55826713
141 - 141
K -> E (in HMN2A; strengthen interaction with HSPB1). VAR_018504
141 - 141
K -> N (in HMN2A and CMT2L; strengthen interaction with HSPB1). VAR_018505
Database cross-references
UniProt:
Q9UJY1
Ensembl:
ENST00000281938
MIM:
158590
MIM:
608014
MIM:
608673
neXtProt:
NX_Q9UJY1
Antibodypedia:
Q9UJY1
(may not find the protein thus also not any antibody)
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