RBCC Red Blood Cell Collection

RT16_HUMAN

Source: PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: MRPS16 , RPMS16 , CGI-132
Protein names and data: RT16_HUMAN , 28S ribosomal protein S16, mitochondrial; MRP-S16; S16mt; Flags: Precursor Lenght: 137 a.a.
Mass: 15345 Da
fasta formatted sequence
Disease: ( OMIM: 609204 610498 ) Combined oxidative phosphorylation deficiency 2 (COXPD2) [MIM:610498]: A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Mitochondrion.

Genetic variants

12 - 12 Y -> H (in dbSNP:rs7905009). VAR_031525 7905009

Database cross-references

UniProt: Q9Y3D3
Ensembl: ENST00000372945
MIM: 609204
MIM: 610498
neXtProt: NX_Q9Y3D3
Antibodypedia: Q9Y3D3 (may not find the protein thus also not any antibody)
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