RS26_HUMAN
Source:
PM23856902
BSc_CH
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:
RPS26
Protein names and data:
RS26_HUMAN
, 40S ribosomal protein S26
Lenght: 115 a.a.
Mass: 13015 Da
fasta formatted sequence
Disease:
( OMIM:
603701
613309
)
Diamond-Blackfan anemia 10 (DBA10) [MIM:613309]: 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 malignancy. 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
33 - 33
D -> N (in DBA10). VAR_063580
115 - 115
M -> T (in DBA10). VAR_063581
Database cross-references
UniProt:
P62854
Ensembl:
ENST00000356464
Ensembl:
ENST00000552361
MIM:
603701
MIM:
613309
neXtProt:
NX_P62854
Antibodypedia:
P62854
(may not find the protein thus also not any antibody)
Local full text data:
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