Gene: MRPL21

Alternate names for this Gene: L21mt|MRP-L21

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 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD).

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.3

Description of this Gene: mitochondrial ribosomal protein L21

Type of Gene: protein-coding

Gene: IGHMBP2

Alternate names for this Gene: CATF1|CMT2S|HCSA|HMN6|SMARD1|SMUBP2|ZFAND7

Gene Summary: This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.3

Description of this Gene: immunoglobulin mu DNA binding protein 2

Type of Gene: protein-coding

rs886037759 in MRPL21;IGHMBP2 gene and SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 PMID 27450922 2016 Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.