5-phosphatase or Pharbin, is an enzyme that in humans is encoded by the INPP5E gene. INPP5E is a phosphatidylinositol (3,4,5)-trisphosphate (PtdInsP3) and phosphatidylinositol...
5 KB (606 words) - 21:26, 14 June 2025
likely to inherit the disorder. The syndrome is caused by a mutation in the INPP5E gene which can be located on chromosome 9 in humans. Further mapping resulted...
9 KB (891 words) - 15:05, 27 October 2024
Type OMIM Gene Locus Inheritance Remarks JBTS1 213300 INPP5E 9q34.3 Autosomal recessive Also known as Cerebellooculorenal syndrome 1 (CORS1) JBTS2 608091...
19 KB (1,541 words) - 07:12, 19 June 2025
cleft palate ATXN10, AHI1, ARL13B, C5ORF42, CC2D2A, CEP41, CEP290, CORS2, INPP5E, JBTS1, JBTS3, JBTS4, KIF7, NPHP1, NPHP3, RPGRIP1L, TCTN1, TCTN2, TMEM67...
26 KB (2,301 words) - 04:51, 26 May 2025
Jackson–Weiss syndrome FGFR2 Jacobsen syndrome 11 1:100,000 Joubert syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138...
43 KB (995 words) - 23:45, 24 May 2025
of 5'phosphoinositide phosphatases include OCRL, SHIP1, SHIP2, INPP5J, INPP5E, INPP5B, INPP5A and SKIP.[citation needed] The synaptojanin family comprises...
10 KB (1,137 words) - 23:28, 1 January 2025
N-terminal of interacts with a PDE6D interacting protein, INPP5E (inositol polyphosphatase 5E). INPP5E has been shown to regulates phosphoinositide metabolism...
18 KB (2,274 words) - 06:43, 9 June 2025
HGNC:6076 Q14642 7685 INPP5B HGNC:6077 P32019 7686 INPP5D HGNC:6079 Q92835 7687 INPP5E HGNC:21474 Q9NRR6 7688 INPP5F HGNC:17054 Q9Y2H2 7689 INPP5J HGNC:8956 Q15735...
277 KB (17 words) - 09:51, 23 June 2025
Progressive Party, Myanmar Inositol-polyphosphate in chemistry (e.g. in INPP5E) This disambiguation page lists articles associated with the title INPP...
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CNOT6; CNOT6L; DNASE1; DNASE1L1; DNASE1L2; DNASE1L3; INPP5A; INPP5B; INPP5D; INPP5E; INPPL1; KIAA1706; OCRL; PIB5PA; SKIP; SMPD2; SMPD3; SYNJ1; SYNJ2; TTRAP;...
4 KB (347 words) - 15:01, 29 March 2022
PMPCA Identifiers Aliases PMPCA, Alpha-MPP, INPP5E, P-55, SCAR2, peptidase, mitochondrial processing alpha subunit, CLA1, CPD3, peptidase, mitochondrial...
8 KB (989 words) - 01:19, 16 June 2025
KCNQ1 Johanson–Blizzard syndrome; 243800; UBR1 Joubert syndrome 1; 213300; INPP5E Joubert syndrome 10; 300804; OFD1 Joubert syndrome 2; 608091; TMEM216 Joubert...
234 KB (18,877 words) - 18:07, 24 March 2025
retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E". Journal of Cell Science. 130 (3): 563–576. doi:10.1242/jcs.197004. ISSN 0021-9533...
14 KB (1,468 words) - 00:45, 24 May 2025