Gene: [10q25/CASP7] caspase 7, apoptosis-related cysteine protease; craniofacial dysostosis 1? (Crouzon syndrome; MIM:123500);
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COM |
Using radiation hybrids the CASP7 gene has been mapped to chromosome 10q25.1-q25.2 (Tiso-1996). Tiso et al. also suggested Crouzon craniofacial dysostosis as a candidate genetic disease at the 10q25-q26 locus (see also GEM:10q2/FGFR2)." |
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GEN |
One cDNA type, MCH3-alpha, encodes a 303-amino acid polypeptide with a predicted molecular mass of approximately 34 kD. The second, presumably alternatively spliced, cDNA type, named MCH3-beta, which contains a deletion and insertion within the sequence and a much longer 5-prime untranslated region; the insertion in the MCH3-beta sequence produces a frame shift which results in a shorter, 253-amino acid, approximately 28-kD polypeptide lacking the QACRG pentapeptide, believed to be the cysteine protease active site of all members of the ICE/CED-3 family. Active MCH3-alpha protein is made by the cleavage of proMCH3-alpha into 2 subunits, p20 and p12 (Fernandes-Alnemri-1995)." |
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FUN |
Casp-7-beta (MCH3-beta) has been proposed to act as a negative regulator of apoptosis by acting as a dominant inhibitor of the activity of CASP-7- alpha (MCH3-alpha) (Fernandes-Alnemri-1995)." |
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MOP |
Fernandes-Alnemri et al. (Fernandes-Alnemri-1995) found that active MCH3-alpha protein is made by the cleavage of proMCH3-alpha into 2 subunits, p20 and p12." |
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REF |
LOC "Bullrich F &: Genomics, 36, N2, 362-365, 1996 COD,SEQ,EXP "Duan H &: JBC, 271, 1621-1625, 1996 EXP,FAG "Fernandes-Alnemri TF &: PNAS, 93, 7464-7469, 1996 CLO,SEQ,EXP "Fernandes-Alnemri TF &: Cancer Res, 55, 6045-6052, 1995 CLO,SEQ,EXP "Lippke JA &: JBC, 271, 1825-1828, 1996 PRO,LOC,FAG "Tiso N &: BBRC, 225, N3, 983-989, 1996 |
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KEY |
pep |
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CLA |
coding, basic |
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LOC |
10 q25.1-.2 |
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MIM |
MIM: 601761 |
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EZN |
ENZYME: 3.4.22.? |
