ACER3

Analyte Export to PDF

Name:	alkaline ceramidase 3
Symbol:	ACER3
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	APHC FLJ11238 alkaline phytoceramidase
XREF(s):	Orphanet HGNC Ensembl SwissProt OMIM Genatlas Reactome
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Leukodystrophy (gene panel)

Related Diseases

• Alkaline ceramidase 3 deficiency

Related Gene Panels

• Leukodystrophy - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  AARS2	99.98	1
  ABAT	99.98	1
  ABCD1	99.98	1
  ACBD5	99.97	1
  ACER3	99.76	1
  ACOX1	99.98	1
  ACP5	100.00	1
  ACTL6B	99.90	1
  ADAR	99.84	1
  ADGRG1	99.90	1
  ADSL	99.93	1
  AGA	99.92	1
  AIFM1	99.92	1
  AIMP1	99.97	1
  AIMP2	99.99	1
  ALDH3A2	99.95	1
  ALDH5A1	96.19	1
  APP	99.92	1
  ARSA	99.99	1
  ASAH1	99.90	1
  ASPA	99.98	1
  ATAD3A	99.62	1
  ATP7A	99.87	1
  ATP7B	100.00	1
  AUH	99.95	1
  B3GALNT2	92.79	1
  BCAP31	99.95	1
  BCS1L	99.99	1
  BOLA3	99.22	1
  BTD	100.00	1
  CBS	17.79	1
  CIC	98.32	1
  CLCN2	100.00	1
  CLN3	99.92	1
  CLN5	100.00	1
  CLN6	100.00	1
  CLN8	100.00	1
  CNP	99.98	1
  CNTNAP1	99.98	1
  COA8	99.94	1
  COL4A1	99.99	1
  COL4A2	99.98	1
  COX10	99.99	1
  COX15	100.00	1
  CYP21A2	99.91	1
  CSF1R	99.92	1
  CTC1	100.00	1
  CTSA	99.98	1
  CTSD	100.00	1
  CTSF	99.96	1
  CYP27A1	100.00	1
  DAG1	100.00	1
  DARS1	98.85	1
  DARS2	98.31	1
  DCAF17	99.84	1
  DDHD2	99.97	1
  DEGS1	99.99	1
  DGUOK	99.93	1
  DLAT	99.65	1
  DLD	99.89	1
  DMXL2	99.86	1
  DNAJC5	99.99	1
  EARS2	99.96	1
  ECHS1	100.00	1
  EIF2AK1	99.90	1
  EIF2AK2	99.70	1
  EIF2B1	99.98	1
  EIF2B2	99.90	1
  EIF2B3	97.26	1
  EIF2B4	99.96	1
  EIF2B5	99.98	1
  EPRS1	99.53	1
  ERCC2	99.98	1
  ERCC3	99.90	1
  ERCC6	99.60	1
  ERCC8	99.79	1
  FA2H	99.98	1
  HYCC1	99.81	1
  FAR1	99.82	1
  FARS2	100.00	1
  FASTKD2	99.93	1
  FBXL4	100.00	1
  FDX2	99.99	1
  CFH	99.97	1
  FIG4	99.83	1
  FKTN	99.94	1
  FLVCR2	100.00	1
  FOLR1	100.00	1
  FUCA1	98.72	1
  GALC	99.92	1
  GALT	100.00	1
  GAN	99.98	1
  GBE1	99.73	1
  GFAP	99.99	1
  GFM1	99.95	1
  GFM2	99.87	1
  GJA1	100.00	1
  GJB1	100.00	1
  GJC2	100.00	1
  GLA	99.90	1
  GLB1	100.00	1
  GM2A	100.00	1
  GNAS	100.00	1
  GPHN	99.94	1
  GRN	100.00	1
  GTF2H5	100.00	1
  HEPACAM	100.00	1
  HEXA	99.99	1
  HEXB	99.91	1
  HIKESHI	99.78	1
  HLCS	99.97	1
  HMGCL	99.31	1
  HSD17B4	99.71	1
  HSPD1	83.42	1
  HTRA1	100.00	1
  IBA57	100.00	1
  IFIH1	99.84	1
  IKBKG	57.34	1
  ISCA2	100.00	1
  IVD	100.00	1
  JAM3	100.00	1
  KARS1	99.98	1
  L2HGDH	99.92	1
  LAMA2	99.95	1
  LARGE1	100.00	1
  LARS2	99.96	1
  LIPT1	99.89	1
  LIPT2	99.99	1
  LMNB1	99.73	1
  LYRM7	99.98	1
  MAN2B1	99.99	1
  MANBA	99.81	1
  MARS2	100.00	1
  MCOLN1	100.00	1
  MFSD8	99.70	1
  MLC1	99.99	1
  MMUT	99.68	1
  MOCS1	99.95	1
  MOCS2	99.96	1
  MPLKIP	99.99	1
  MPV17	99.98	1
  MRPS34	100.00	1
  MTFMT	99.98	1
  MTHFR	99.97	1
  MTO1	90.25	1
  NAXD	99.99	1
  NAXE	99.99	1
  NDUFA2	99.95	1
  NDUFA9	100.00	1
  NDUFAF1	100.00	1
  NDUFAF3	100.00	1
  NDUFAF4	99.95	1
  NDUFAF6	99.86	1
  NDUFS1	99.79	1
  NDUFS2	99.66	1
  NDUFS4	99.99	1
  NDUFS7	99.99	1
  NDUFS8	100.00	1
  NDUFV1	99.99	1
  NEU1	99.98	1
  NKX6-2	100.00	1
  NOTCH3	99.99	1
  NPC1	99.99	1
  NPC2	100.00	1
  NTNG2	99.98	1
  NUBPL	99.62	1
  OCLN	82.91	1
  OCRL	99.89	1
  PAH	99.96	1
  PARS2	99.99	1
  PCCA	99.90	1
  PCCB	99.97	1
  PDGFB	99.99	1
  PDGFRB	99.99	1
  PDHA1	99.04	1
  PDHB	99.94	1
  PDHX	99.64	1
  PDP1	100.00	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
  PLEKHG2	99.99	1
  PLP1	99.98	1
  PLPBP	99.99	1
  PMPCB	99.94	1
  PNPT1	99.56	1
  POLG	100.00	1
  POLR1C	100.00	1
  POLR3A	99.97	1
  POLR3B	99.94	1
  POLR3K	100.00	1
  POMGNT1	99.69	1
  POMT1	99.96	1
  POMT2	99.98	1
  PPT1	97.48	1
  PRF1	100.00	1
  PSAP	99.94	1
  PSAT1	99.98	1
  PSPH	99.09	1
  PYCR2	99.95	1
  QDPR	99.92	1
  RARS1	99.76	1
  RNASEH2A	99.95	1
  RNASEH2B	99.94	1
  RNASEH2C	99.99	1
  RNASET2	99.99	1
  SAMHD1	99.98	1
  SCP2	94.94	1
  SDHA	99.98	1
  SDHAF1	99.99	1
  SDHAF2	99.96	1
  SDHB	97.32	1
  SDHD	82.93	1
  SEPSECS	99.78	1
  SGO1	99.90	1
  SHANK3	98.45	1
  SLC13A3	99.98	1
  SLC16A2	99.97	1
  SLC17A5	99.71	1
  SLC20A2	99.95	1
  SLC25A12	99.72	1
  SLC44A1	99.90	1
  SLC7A2	99.97	1
  SNAP29	99.85	1
  SNORD118	100.00	1
  SOX10	100.00	1
  SPG11	99.89	1
  STN1	99.88	1
  STX11	100.00	1
  STXBP2	100.00	1
  SUCLA2	99.96	1
  SUMF1	99.95	1
  SUOX	100.00	1
  SURF1	100.00	1
  TACO1	100.00	1
  TMEM106B	99.92	1
  TMEM63A	99.91	1
  ACD	99.99	1
  TREM2	100.00	1
  TREX1	100.00	1
  TSEN54	100.00	1
  TTR	100.00	1
  TUBB4A	100.00	1
  TWNK	100.00	1
  TYMP	99.87	1
  TYROBP	99.95	1
  UBTF	99.99	1
  UFM1	99.25	1
  UNC13D	100.00	1
  VPS11	99.99	1
  WARS2	97.72	1
  WT1	99.99	1
  XPR1	99.13	1
  ZFYVE26	100.00	1