CYP7A1

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Name:	cytochrome P450 family 7 subfamily A member 1
Symbol:	CYP7A1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	cholesterol 7 alpha-monooxygenase cholesterol 7a-hydroxylase
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Hepatology (gene panel)

Related Diseases

• Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Related Gene Panels

• Hepatology panel - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ABCB11	99.86	1
  ABCB4	99.71	1
  ABCC2	99.94	1
  ABCD3	92.70	1
  ABCG5	99.96	1
  ABCG8	99.95	1
  ACADM	96.14	1
  ACADVL	100.00	1
  ACAT1	99.81	1
  ACOX2	99.81	1
  ADK	99.78	1
  AGL	97.67	1
  AGPAT2	100.00	1
  AKR1D1	99.91	1
  ALAD	99.99	1
  ALDOA	100.00	1
  ALDOB	100.00	1
  ALG8	95.49	1
  ALG9	99.73	1
  ALMS1	99.90	1
  AMACR	100.00	1
  ANKS6	100.00	1
  AP1S1	99.49	1
  ARG1	99.95	1
  ASL	99.98	1
  ASS1	77.52	1
  ATP7B	100.00	1
  ATP8B1	99.94	1
  BAAT	99.98	1
  BCS1L	99.99	1
  BSCL2	99.99	1
  BTD	100.00	1
  CAVIN1	100.00	1
  CC2D2A	99.95	1
  CCDC115	99.90	1
  CFTR	99.45	1
  CLDN1	99.99	1
  COG6	99.86	1
  COG7	99.74	1
  CYP21A2	99.91	1
  CPT1A	99.98	1
  CPT2	99.65	1
  CREB3L3	99.98	1
  CYP27A1	100.00	1
  CYP7A1	99.99	1
  CYP7B1	99.82	1
  DCDC2	99.96	1
  DGUOK	99.93	1
  DHCR7	99.97	1
  DKC1	99.59	1
  DLD	99.89	1
  DNAJB11	99.97	1
  EHHADH	99.99	1
  EIF2AK3	97.43	1
  ENO3	100.00	1
  EPHX1	99.97	1
  EPM2A	99.99	1
  ETFA	99.88	1
  ETFB	100.00	1
  FANCA	99.98	1
  FARSA	100.00	1
  FARSB	99.64	1
  FBP1	100.00	1
  FTH1	22.62	1
  G6PC1	99.93	1
  GAA	100.00	1
  GALE	99.90	1
  GALK1	100.00	1
  GALM	100.00	1
  GALT	100.00	1
  GANAB	99.97	1
  GBA1	96.92	1
  GBE1	99.73	1
  GFM1	99.95	1
  GNAS	100.00	1
  GUSB	95.07	1
  GYS1	99.98	1
  GYS2	99.86	1
  HADHA	99.98	1
  HAMP	99.99	1
  HFE	100.00	1
  HJV	99.99	1
  HLCS	99.97	1
  HNF1B	100.00	1
  HSD17B4	99.71	1
  HSD3B7	100.00	1
  IARS1	99.89	1
  IFT140	100.00	1
  INVS	99.94	1
  IVD	100.00	1
  JAG1	100.00	1
  KIF12	99.99	1
  KRT18	47.42	1
  KRT8	71.60	1
  LAMP2	98.95	1
  LARS1	99.87	1
  LDHA	99.94	1
  LIPA	99.96	1
  LRP5	99.95	1
  LSR	99.98	1
  MARS1	99.97	1
  MCEE	99.90	1
  MKS1	99.92	1
  MMUT	99.68	1
  MPI	99.95	1
  MPV17	99.98	1
  MVK	99.97	1
  MYO5B	100.00	1
  NBAS	99.86	1
  NEK9	99.99	1
  NEU1	99.98	1
  NGLY1	99.93	1
  NHLRC1	100.00	1
  NOTCH2	99.03	1
  NPC1	99.99	1
  NPC2	100.00	1
  NPHP1	99.05	1
  NPHP3	99.89	1
  NPHP4	99.98	1
  NR1H4	99.49	1
  OXCT1	99.82	1
  PODXL	99.99	1
  PCCA	99.90	1
  PCCB	99.97	1
  PEX1	98.80	1
  PEX10	100.00	1
  PEX11B	99.62	1
  PEX12	100.00	1
  PEX13	99.36	1
  PEX14	100.00	1
  PEX16	99.94	1
  PEX19	99.25	1
  PEX2	100.00	1
  PEX26	100.00	1
  PEX3	99.85	1
  PEX5	99.89	1
  PEX6	99.99	1
  PEX7	99.72	1
  PFKM	99.57	1
  PGAM2	100.00	1
  PGK1	99.93	1
  PGM1	96.77	1
  PHKA1	99.84	1
  PHKA2	99.92	1
  PHKB	99.69	1
  PHKG2	99.86	1
  PKD1	99.98	1
  PKD2	99.91	1
  PKHD1	99.95	1
  PMM2	99.93	1
  PNPLA3	100.00	1
  POLG	100.00	1
  PPM1F	100.00	1
  PRKAG2	99.96	1
  PRKCSH	99.99	1
  PYGL	99.99	1
  PYGM	99.96	1
  RBCK1	100.00	1
  RINT1	99.99	1
  RPGRIP1L	96.35	1
  SBDS	99.93	1
  SCO1	99.98	1
  SEC63	99.84	1
  SERPINA1	100.00	1
  SLC10A1	99.99	1
  SLC10A2	99.99	1
  SLC16A1	99.26	1
  SLC25A13	99.67	1
  SLC25A20	100.00	1
  SLC2A2	99.96	1
  SLC30A10	99.99	1
  SLC51A	100.00	1
  SLCO1B1	98.69	1
  SLCO1B3	99.85	1
  SMPD1	100.00	1
  PMP22	99.99	1
  STN1	99.88	1
  STT3B	99.96	1
  TALDO1	100.00	1
  TANGO2	99.85	1
  TFR2	99.97	1
  TJP2	99.99	1
  TMEM216	99.98	1
  TMEM67	99.69	1
  TRMU	100.00	1
  SKIC3	99.82	1
  TWNK	100.00	1
  UGT1A1	99.98	1
  UNC45A	100.00	1
  UROS	100.00	1
  USP53	99.92	1
  UTP4	99.91	1
  VIPAS39	99.87	1
  VPS33B	99.95	1
  VPS50	98.35	1
  WDR83OS	100.00	1
  YARS1	99.29	1
  ZFYVE19	99.99	1