ARL6 Rabbit Polyclonal Antibody, 20ul Immuno Plates Mutations in PFKM have been

Mutations in PFKM have been associated with glycogen storage disease type VII

The protein encoded by this gene contains a zinc finger at the N-terminus| and is thought to bind to a histone modification site that regulates gene expression

The ESRR family is closely related to the estrogen receptor (ER) family

Diseases associated with MYF5 include skeletal muscle cancer and botryoid rhabdomyosarcoma

This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein

ARL6 Rabbit Polyclonal Antibody, 20ul Immuno Plates Mutations in PFKM have beenThe protein encoded by this gene belongs to the ARF like (ADP ribosylation factor like) sub family of the ARF family of GTP binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet Biedl syndrome (BBS). A vision specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246).