Protein O-Mannosyltransferase 2 (POMT2)
 HGNC 19743
 MGI 2444430
 PubMed 18490429
 RGD 1586427
 UniProt Q9UKY4
 USCN F750
 Wiki POMT2
Protein O-Mannosyltransferase 2 (POMT2)
POMT2 is an integral membrane protein of the endoplasmic reticulum (ER) that shares significant sequence similarity with a family of protein O-mannosyltransferases of S. cerevisiae.
Highly expressed in testis; detected at low levels in most tissues.
Defects in POMT2 are a cause of Walker-Warburg syndrome (WWS); also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. WWS is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life.
Organism species: Homo sapiens (Human)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a
Organism species: Mus musculus (Mouse)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a
Organism species: Rattus norvegicus (Rat)
CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a n/a n/a
Antibodies n/a n/a n/a
Assay Kits n/a n/a n/a