POP1 gene

POP1 homolog, ribonuclease P/MRP subunit

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

From NCBI Gene:

This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

From UniProt:

Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends. Also a component of RNase MRP.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Anauxetic dysplasia 2

From UniProt:

Anauxetic dysplasia 2 (ANXD2): An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. [MIM:617396]

Cytogenetic Location: 8q22.2, which is the long (q) arm of chromosome 8 at position 22.2

Molecular Location: base pairs 98,117,293 to 98,159,841 on chromosome 8 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 8q22.2, which is the long (q) arm of chromosome 8 at position 22.2