CS012_HUMAN
Source:
PM23856902
Marked as 'Integral membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
C19orf12
Protein names and data:
CS012_HUMAN
, Protein C19orf12
Lenght: 152 a.a.
Mass: 16286 Da
fasta formatted sequence
Disease:
( OMIM:
614297
614298
)
Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Mitochondrion. Mitochondrion membrane; Single-pass membrane protein (Potential).
Genetic variants
11 - 11
T -> M (in NBIA4). VAR_066617
39 - 39
S -> F (in NBIA4). VAR_069756
48 - 48
A -> P (in NBIA4). VAR_069757
53 - 53
G -> R (in NBIA4; dbSNP:rs200133991). VAR_066618
200133991
60 - 60
P -> L (in NBIA4). VAR_069758
65 - 65
G -> E (in NBIA4). VAR_066619
65 - 65
G -> V (in NBIA4). VAR_069759
69 - 69
G -> R (in NBIA4). VAR_066620
83 - 83
P -> L (in NBIA4; dbSNP:rs201987973). VAR_069760
201987973
98 - 98
R -> S (in NBIA4). VAR_069761
121 - 121
L -> Q (in NBIA4). VAR_069762
134 - 134
A -> P (in NBIA4; unknown pathological significance). VAR_069763
142 - 142
K -> E (found in families with neurodegeneration with brain iron accumulation; uncertain pathological significance; dbSNP:rs146170087). VAR_066621
146170087
142 - 142
K -> T (in dbSNP:rs79915936). VAR_066622
79915936
149 - 149
Q -> R (in dbSNP:rs73023451). VAR_069764
73023451
Database cross-references
UniProt:
Q9NSK7
Ensembl:
ENST00000323670
Ensembl:
ENST00000392276
Ensembl:
ENST00000392278
Ensembl:
ENST00000592153
MIM:
614297
MIM:
614298
neXtProt:
NX_Q9NSK7
Antibodypedia:
Q9NSK7
(may not find the protein thus also not any antibody)
Local full text data:
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