Gene: MRPS18A
Alternate names for this Gene: HumanS18b|MRP-S18-3|MRP-S18-a|MRPS18-3|S18bmt|S18mt-a
Gene Summary: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.1
Description of this Gene: mitochondrial ribosomal protein S18A
Type of Gene: protein-coding
Gene: RSPH9
Alternate names for this Gene: C6orf206|CILD12|MRPS18AL1
Gene Summary: This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.1
Description of this Gene: radial spoke head component 9
Type of Gene: protein-coding
rs397515340 in
MRPS18A;RSPH9 gene and
Ciliary Motility Disorders
PMID 22384920 2012 From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.
PMID 23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
PMID 19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.