KEGG   VARIANT: 5422v1
Entry
5422v1                      Variant                                
Name
POLA1 mutation
Type
Loss of function
Gene
POLA1  DNA polymerase alpha catalytic subunit isoform 2 [KO:K02320]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 312040
Network
nt06509  DNA replication
Disease
H00658  X-linked syndromic intellectual developmental disorder
H02484  X-linked reticulate pigmentary disorder with systemic manifestations
Reference
  Authors
Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E
  Title
DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.
  Journal
Nat Immunol 17:495-504 (2016)
DOI:10.1038/ni.3409
Reference
  Authors
Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Ounap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M
  Title
Defective DNA Polymerase alpha-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
  Journal
Am J Hum Genet 104:957-967 (2019)
DOI:10.1016/j.ajhg.2019.03.006
LinkDB

DBGET integrated database retrieval system