- Analytes
- UCP2
UCP2
Name: |
uncoupling protein 2
|
Symbol: |
UCP2
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
SLC25A8
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
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Lipodystrophy and/or hyperinsulinism (30 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC8 100.00 1 NM_000352.6 AGPAT2 100.00 1 NM_006412.4 AKT2 100.00 1 NM_001626.6 ALMS1 100.00 1 NM_001378454.1 BLM 100.00 1 NM_000057.4 BSCL2 100.00 1 NM_001122955.4 CAV1 100.00 1 NM_001753.5 CAVIN1 100.00 1 NM_012232.6 CIDEC 100.00 1 NM_001321142.2 GCK 100.00 1 NM_000162.5 GLUD1 100.00 1 NM_005271.5 HADH 100.00 1 NM_005327.7 INSR 100.00 1 NM_000208.4 KCNJ11 100.00 1 NM_000525.4 LIPE 100.00 1 NM_005357.4 LMNA 100.00 1 NM_170707.4 PCNT 100.00 1 NM_006031.6 PCYT1A 100.00 1 NM_001312673.2 PIK3R1 100.00 1 NM_181523.3 POLD1 100.00 1 NM_002691.4 PPARG 100.00 1 NM_138711.6 SLC16A1 100.00 1 NM_003051.4 WRN 100.00 1 NM_000553.6 ZMPSTE24 100.00 1 NM_005857.5 HNF1A 100.00 1 NM_000545.8 HNF4A 100.00 1 NM_175914.5 MAFA 100.00 1 NM_201589.4 PLAAT3 100.00 1 NM_001128203.2 PPP1R3A 100.00 1 NM_002711.4 UCP2 100.00 1 NM_003355.3 -
Obesity - 13 genes - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 100.00 1 no BDNF 100.00 1 no LEP 100.00 1 no LEPR 100.00 1 no MC3R 100.00 1 no MC4R 100.00 1 no NR0B2 100.00 1 no NTRK2 100.00 1 no PCSK1 100.00 1 no POMC 100.00 1 no SIM1 100.00 1 no UCP3 100.00 1 no UCP2 100.00 1 NM_003355.3