PADI6 gene

peptidyl arginine deiminase 6

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

From NCBI Gene:

This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]

From UniProt:

Catalyzes the deimination of arginine residues of proteins (By similarity). May be involved in cytoskeletal reorganization in the egg and early embryo (PubMed:27545678).

From NCBI Gene:

  • PREIMPLANTATION EMBRYONIC LETHALITY 2

From UniProt:

Preimplantation embryonic lethality 2 (PREMBL2): A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive. [MIM:617234]

Cytogenetic Location: 1p36.13, which is the short (p) arm of chromosome 1 at position 36.13

Molecular Location: base pairs 17,372,196 to 17,401,699 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p36.13, which is the short (p) arm of chromosome 1 at position 36.13
  • hPADVI
  • PREMBL2