PMPCA
entrez
23203
canonical
uniprot
Q10713
canonical
ensembl
ENSG00000165688
resolver
ensp
ENSP00000360782
resolver
ensp
ENSP00000408393
resolver
enst
ENST00000444897
resolver
genesymbol
PMPCA
resolver
genesymbol_syn
INPP5E
resolver
genesymbol_syn
KIAA0123
resolver
genesymbol_syn
MPPA
resolver
hgnc
HGNC:18667
resolver
uniprot
B4DKL3
resolver
uniprot
E7ET61
resolver
uniprot
Q16639
resolver
uniprot
Q5SXM9
resolver
uniprot
Q5SXN9
resolver
uniprot
Q8N513
resolver
uniprot_entry
MPPA_HUMAN
resolver
uniprot_entry
Q5SXN9_HUMAN
resolver
uniprot_sec
B4DKL3
resolver
uniprot_sec
E7ET61
resolver
uniprot_sec
Q16639
resolver
uniprot_sec
Q5SXM9
resolver
uniprot_sec
Q8N513
resolver
amino_acid_sequence
MAAVVLAATRLLRGSGSWGCSRLRFGPPAYRRFSSGGAYPNIPLSSPLPGVPKPVFATVDGQEKFETKVTTLDNGLRVASQNKFGQFCTVGILINSGSRYEAKYLSGIAHFLEKLAFSSTARFDSKDEILLTLEKHGGICDCQTSRDTTMYAVSADSKGLDTVVALLADVVLQPRLTDEEVEMTRMAVQFELEDLNLRPDPEPLLTEMIHEAAYRENTVGLHRFCPTENVAKINREVLHSYLRNYYTPDRMVLAGVGVEHEHLVDCARKYLLGVQPAWGSAEAVDIDRSVAQYTGGIAKLERDMSNVSLGPTPIPELTHIMVGLESCSFLEEDFIPFAVLNMMMGGGGSFSAGGPGKGMFSRLYLNVLNRHHWMYNATSYHHSYEDTGLLCIHASADPRQVREMVEIITKEFILMGGTVDTVELERAKTQLTSMLMMNLESRPVIFEDVGRQVLATRSRKLPHELCTLIRNVKPEDVKRVASKMLRGKPAVAALGDLTDLPTYEHIQTALSSKDGRLPRTYRLFR
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, 2 (SCAR2) [MIM:213200]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual disability. {ECO:0000269|PubMed:25808372, ECO:0000269|PubMed:26657514}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP), which cleaves the mitochondrial sequence off newly imported precursors proteins. {ECO:0000269|PubMed:25808372}.
uniprot
proteins
mass_dalton
58253
uniprot
proteins
protein_family
Peptidase M16 family
uniprot
proteins
pubmed
11840567
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25808372
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26657514
uniprot
proteins
pubmed
7788527
uniprot
proteins
pubmed
8590280
uniprot
proteins
sequence_length
525
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P20069}. Mitochondrion inner membrane {ECO:0000269|PubMed:25808372}.
uniprot
proteins