RS17_HUMAN
Source:
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
RPS17
Protein names and data:
RS17_HUMAN
, 40S ribosomal protein S17
Lenght: 135 a.a.
Mass: 15550 Da
fasta formatted sequence
Disease:
( OMIM:
180472
612527
)
Diamond-Blackfan anemia 4 (DBA4) [MIM:612527]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
36 - 36
E -> K (in dbSNP:rs1043734). VAR_034478
1043734
Database cross-references
UniProt:
P08708
Ensembl:
ENST00000330339
MIM:
180472
MIM:
612527
neXtProt:
NX_P08708
Antibodypedia:
P08708
(may not find the protein thus also not any antibody)
Local full text data:
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