Description
myelin protein zero [Source:HGNC Symbol;Acc:7225]
Gene Synonyms
CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0
Location
Chromosome 1: 161,274,525-161,279,762 reverse strand.
GRCh37:CM000663.1
About this gene
This gene has 8 transcripts (splice variants), 5 paralogues and is associated with 18 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000533357.1 | MPZ-001 | 1955 | 248aa | ENSP00000432943.1 | Protein coding | CCDS1229 | E9PL80 P25189 | NM_000530.6 | GENCODE basic, |
ENST00000360451.6 | MPZ-202 | 1951 | 258aa | ENSP00000353634.6 | Protein coding | E9PL80 P25189 | - | GENCODE basic, | |
ENST00000491222.2 | MPZ-005 | 1824 | 52aa | ENSP00000431441.1 | Protein coding | E9PL80 | - | GENCODE basic, | |
ENST00000336559.4 | MPZ-201 | 820 | 250aa | ENSP00000337777.4 | Protein coding | E7EWP3 Q14902 | - | GENCODE basic, | |
ENST00000463290.1 | MPZ-002 | 1693 | 248aa | ENSP00000431538.1 | Nonsense mediated decay | CCDS1229 | E9PL80 P25189 | - | - |
ENST00000526189.1 | MPZ-006 | 957 | No protein | - | Processed transcript | - | - | - | |
ENST00000476410.1 | MPZ-003 | 878 | No protein | - | Retained intron | - | - | - | |
ENST00000488271.1 | MPZ-004 | 366 | No protein | - | Retained intron | - | - | - |