| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Displays temperature-dependent chaperone activity. SUBUNIT: Monomer. Interacts with HSPB1. Interacts with DNAJB6. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates to nuclear foci during heat shock. TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and heart. INDUCTION: By 17-beta-estradiol. DISEASE: Defects in HSPB8 are the cause of distal hereditary motor neuronopathy type 2A (HMN2A) [MIM:158590]; also known as distal hereditary motor neuropathy type IIA or spinal Charcot-Marie-Tooth disease IIA. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective impairment 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. DISEASE: Defects in HSPB8 are the cause of Charcot-Marie-Tooth disease type 2L (CMT2L) [MIM:608673]. CMT2L is an axonal form of Charcot-Marie-Tooth disease. Axonal CMT neuropathies are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. SIMILARITY: Belongs to the small heat shock protein (HSP20) family. CAUTION: Was reported (PubMed:10833516) to have a protein kinase activity and to act as a Mn(2+)-dependent serine-threonine- specific protein kinase. WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HSPB8"; GENE SYNONYMS:HSPB8 CRYAC E2IG1 HSP22. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 196 AA; 21604 MW; B76058CED52292CB CRC64;
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| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:30171,
urn:biopax:RelationshipXref:NCBI GENE_26353,
urn:biopax:RelationshipXref:REFSEQ_NP_055180,
urn:biopax:UnificationXref:UNIPROT_B2R6A6,
urn:biopax:UnificationXref:UNIPROT_Q6FIH3,
urn:biopax:UnificationXref:UNIPROT_Q9UJY1,
urn:biopax:UnificationXref:UNIPROT_Q9UKS3
|
| biopax3:displayName |
HSPB8_HUMAN
|
| biopax3:name |
Alpha-crystallin C chain,
E2-induced gene 1 protein,
HSPB8,
HspB8,
Protein kinase H11,
Small stress protein-like protein HSP22
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MADGQMPFSCHYPSRLRRDPFRDSPLSSRLLDDGFGMDPFPDDLTASWPDWALPRLSSAWPGTLRSGMVPRGPTATARFGVPAEGRTPPPFPGEPWKVCVNVHSFKPEELMVKTKDGYVEVSGKHEEKQQEGGIVSKNFTKKIQLPAEVDPVTVFASLSPEGLLIIEAPQVPPYSTFGESSFNNELPQDSQEVTCT
|
| biopax3:standardName |
Heat shock protein beta-8
|