RL26_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:
RPL26
Protein names and data:
RL26_HUMAN
, 60S ribosomal protein L26
Lenght: 145 a.a.
Mass: 17258 Da
fasta formatted sequence
Disease:
( OMIM:
603704
614900
)
Diamond-Blackfan anemia 11 (DBA11) [MIM:614900]: 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.
Database cross-references
UniProt:
P61254
Ensembl:
ENST00000293842
Ensembl:
ENST00000582556
Ensembl:
ENST00000583011
Ensembl:
ENST00000584164
MIM:
603704
MIM:
614900
neXtProt:
NX_P61254
Antibodypedia:
P61254
(may not find the protein thus also not any antibody)
Local full text data:
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