RPL35 gene

ribosomal protein L35

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

From UniProt:

Component of the large ribosomal subunit.

From NCBI Gene:

  • Diamond-Blackfan anemia 19

From UniProt:

Diamond-Blackfan anemia 19 (DBA19): 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. DBA19 inheritance is autosomal dominant. [MIM:618312]

Cytogenetic Location: 9q33.3, which is the long (q) arm of chromosome 9 at position 33.3

Molecular Location: base pairs 124,857,883 to 124,861,957 on chromosome 9 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 9q33.3, which is the long (q) arm of chromosome 9 at position 33.3
  • DBA19
  • L35