NGF_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:
NGF
, NGFB
Protein names and data:
NGF_HUMAN
, Beta-nerve growth factor; Beta-NGF; Flags: Precursor
Lenght: 241 a.a.
Mass: 26959 Da
fasta formatted sequence
Function:
Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades through those receptor tyrosine kinase to regulate neuronal proliferation, differentiation and survival.
Disease:
( OMIM:
162030
608654
)
Hereditary sensory and autonomic neuropathy 5 (HSAN5) [MIM:608654]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN5 patients manifest loss of pain perception and impaired temperature sensitivity, ulcers, and in some cases self- mutilation. The autonomic involvement is variable. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted.
Genetic variants
35 - 35
A -> V (in dbSNP:rs6330). VAR_013783
6330
72 - 72
V -> M (in dbSNP:rs11466110). VAR_025553
11466110
80 - 80
R -> Q (in dbSNP:rs11466111). VAR_025554
11466111
162 - 162
E -> EGE (in HSAN5; uncertain pathological significance). VAR_068478
187 - 187
S -> N (found in a patient with congenital insensitivity to pain; uncertain pathological significance). VAR_068479
221 - 221
R -> W (in HSAN5; the mutant protein is unable to activate the NTRK1 receptor; may act as a hypomorphic allele; dbSNP:rs11466112). VAR_030659
11466112
Database cross-references
UniProt:
P01138
Ensembl:
ENST00000369512
MIM:
162030
MIM:
608654
neXtProt:
NX_P01138
Antibodypedia:
P01138
(may not find the protein thus also not any antibody)
Local full text data:
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