KEGG   ORTHOLOGY: K24275
Entry
K24275                      KO                                     
Symbol
FAM111B
Name
protein FAM111B
Disease
H01906  Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis
Brite
KEGG Orthology (KO) [BR:ko00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99995 Signaling proteins
    K24275  FAM111B; protein FAM111B
Genes
HSA: 374393(FAM111B)
PTR: 451208(FAM111B)
PPS: 100977751(FAM111B)
GGO: 101128645(FAM111B)
PON: 100440244(FAM111B)
MCC: 106993233(FAM111B)
MCF: 102143554(FAM111B)
MTHB: 126936088
MNI: 105496099(FAM111B)
CATY: 105600755(FAM111B)
PANU: 101023928(FAM111B)
TGE: 112606458(FAM111B)
MLEU: 105530750(FAM111B)
RRO: 104679446(FAM111B)
RBB: 108541350(FAM111B)
TFN: 117081664(FAM111B)
PTEH: 111544848(FAM111B)
CANG: 105527200(FAM111B)
CJC: 100396222(FAM111B)
SBQ: 101049408(FAM111B)
CIMI: 108282875(FAM111B)
CSYR: 103257715(FAM111B)
MMUR: 105863116(FAM111B)
PCOQ: 105809957(FAM111B)
OGA: 100945535(FAM111B)
CCAN: 109695910(Fam111b)
GVR: 103597527(FAM111B)
CFA: 609897(FAM111B)
CLUD: 112663400(FAM111B)
VVP: 112930485(FAM111B)
VLG: 121501336(FAM111B)
NPO: 129494135(FAM111B)
AML: 100479699(FAM111B)
UMR: 103666142(FAM111B)
UAH: 113246546(FAM111B)
UAR: 123785074(FAM111B)
ELK: 111149741
LLV: 125079468
MPUF: 101673573(FAM111B)
MNP: 132020804(FAM111B)
MLK: 131813027(FAM111B)
NVS: 122912954(FAM111B)
ORO: 101371129(FAM111B)
EJU: 114215385(FAM111B)
ZCA: 113914865(FAM111B)
MLX: 118015879(FAM111B)
NSU: 110576149(FAM111B)
LWW: 102738036(FAM111B)
FCA: 101095194(FAM111B)
PYU: 121043385(FAM111B)
PCOO: 112865070(FAM111B)
PBG: 122483804(FAM111B)
PVIV: 125176689(FAM111B)
LRUF: 124505632
PTG: 102967066(FAM111B)
PPAD: 109246477(FAM111B)
PUC: 125933284
AJU: 106986797
HHV: 120240303(FAM111B)
BTA: 509351(FAM111B)
BOM: 102285477(FAM111B)
BIU: 109569875(FAM111B)
BBUB: 102393113(FAM111B)
BBIS: 104983629
CHX: 102176630(FAM111B)
OAS: 101109642(FAM111B)
BTAX: 128060904(FAM111B)
ODA: 120877114(FAM111B)
CCAD: 122450314(FAM111B)
MBEZ: 129554879(FAM111B)
SSC: 100517326(FAM111B)
CFR: 102511583(FAM111B)
CBAI: 105070060(FAM111B)
CDK: 105094917(FAM111B)
VPC: 102531742(FAM111B)
BACU: 103014828(FAM111B)
BMUS: 118900257
PCAD: 102974470(FAM111B)
ECB: 100068439(FAM111B)
EPZ: 103556888(FAM111B)
EAI: 106825136(FAM111B)
MMYO: 118664986(FAM111B)
PKL: 118712590(FAM111B)
EFUS: 103292759(FAM111B)
DRO: 112303562(FAM111B)
SHON: 118996871(FAM111B)
AJM: 119058881(FAM111B)
PDIC: 114499110(FAM111B)
MMF: 118628715(FAM111B)
RFQ: 117031068(FAM111B)
PGIG: 120600879(FAM111B)
PVP: 105311675(FAM111B)
MJV: 108384739(FAM111B)
LAV: 100674293(FAM111B)
TMU: 101349674
DNM: 101421844(FAM111B)
BBEL: 109461702
ATEN: 116289628
 » show all
Reference
  Authors
Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bezieau S, Mayosi BM
  Title
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
  Journal
Am J Hum Genet 93:1100-7 (2013)
DOI:10.1016/j.ajhg.2013.10.013
  Sequence
[hsa:374393]

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